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Example MolecularDefinition/example-variation-cyp2c19-1015-vrs (XML)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: No defined compartments

Raw XML (canonical form + also see XML Format Specification)

Example of Variation of CYP2C19 at Position 1015 as VRS (id = "example-variation-cyp2c19-1015-vrs")

<?xml version="1.0" encoding="UTF-8"?>

<MolecularDefinition xmlns="http://hl7.org/fhir">
  <id value="example-variation-cyp2c19-1015-vrs"/> 
  <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-nm0007694-url"/> 
        <type value="MolecularDefinition"/> 
        <display value="Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4"/> 
      </sequenceContext> 
      <coordinateInterval> 
        <coordinateSystem> 
          <system> 
            <coding> 
              <system value="http://loinc.org"/> 
              <code value="LA30100-4"/> 
              <display value="0-based interval counting"/> 
            </coding> 
            <text value="0-based interval counting"/> 
          </system> 
        </coordinateSystem> 
        <startQuantity> 
          <value value="1015"/> 
        </startQuantity> 
        <endQuantity> 
          <value value="1016"/> 
        </endQuantity> 
      </coordinateInterval> 
    </sequenceLocation> 
  </location> 
  <representation> 
    <focus> 
      <coding> 
        <code value="reference-state"/> 
        <display value="Reference State"/> 
      </coding> 
    </focus> 
    <literal> 
      <value value="A"/> 
    </literal> 
  </representation> 
  <representation> 
    <focus> 
      <coding> 
        <code value="alternative-state"/> 
        <display value="Alternative State"/> 
      </coding> 
    </focus> 
    <literal> 
      <value value="G"/> 
    </literal> 
  </representation> 
</MolecularDefinition> 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.