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type: exampleresource: MolecularDefinitionexample: moleculardefinition-example-variation-pgx-var-1019

MolecularDefinition Example: moleculardefinition-example-variation-pgx-var-1019

Example XML

<?xml version="1.0" encoding="UTF-8"?>
<MolecularDefinition xmlns="http://hl7.org/fhir">
    <id value="example-variation-pgx-var-1019"/>
    <moleculeType>
        <coding>
            <system value="http://hl7.org/fhir/sequence-type"/>
            <code value="dna"/>
            <display value="DNA Sequence"/>
        </coding>
    </moleculeType>
    <location>
        <sequenceLocation>
            <sequenceContext>
                <reference value="MolecularDefinition/example-sequence-nc00001010-url"/>
                <type value="MolecularDefinition"/>
                <display value="Starting Sequence Resource: Homo sapiens chromosome 10, GRCh37.p13 Primary Assembly, NC_000010.10"/>
            </sequenceContext>
            <coordinateInterval>
                <coordinateSystem>
                    <system>
                        <coding>
                            <system value="http://loinc.org"/>
                            <code value="LA30102-0"/>
                            <display value="1-based character counting"/>
                        </coding>
                        <text value="1-based character counting"/>
                    </system>
                </coordinateSystem>
                <startQuantity>
                    <value value="31096368"/>
                </startQuantity>
                <endQuantity>
                    <value value="31096368"/>
                </endQuantity>
            </coordinateInterval>
        </sequenceLocation>
    </location>
    <representation>
        <focus>
            <coding>
                <code value="reference-state"/>
                <display value="Reference State"/>
            </coding>
        </focus>
        <literal>
            <value value="G"/>
        </literal>
    </representation>
    <representation>
        <focus>
            <coding>
                <code value="alternative-state"/>
                <display value="Alternative State"/>
            </coding>
        </focus>
        <code>
            <coding>
                <system value="http://varnomen.hgvs.org"/>
                <code value="NC_000010.10:g.31096368G>T"/>
                <display value="NC_000010.10:g.31096368G>T"/>
            </coding>
        </code>
        <literal>
            <value value="T"/>
        </literal>
    </representation>
</MolecularDefinition>