Example of Variation profile of CYP2C19 at Position 991 as HGVS

@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

[a fhir:MolecularDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "example-variation-cyp2c19-991-hgvs"] ; # 
  fhir:meta [
     fhir:profile ( [
       fhir:v "http://hl7.org/fhir/StructureDefinition/variation"^^xsd:anyURI ;
       fhir:link <http://hl7.org/fhir/StructureDefinition/variation>
     ] )
  ] ; # 
  fhir:type [ fhir:v "dna"] ; # 
  fhir:location ( [
     fhir:sequenceLocation [
       fhir:sequenceContext [
         fhir:reference [ fhir:v "MolecularDefinition/example-sequence-nm0007694-url" ] ;
         fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
         fhir:display [ fhir:v "Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4" ]
       ] ;
       fhir:coordinateInterval [
         fhir:numberingSystem [
           fhir:coding ( [
             a loinc:LA30100-4 ;
             fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
             fhir:code [ fhir:v "LA30100-4" ] ;
             fhir:display [ fhir:v "0-based interval counting" ]
           ] ) ;
           fhir:text [ fhir:v "0-based interval counting" ]
         ] ;
         fhir:start [
           a fhir:Quantity ;
           fhir:value [ fhir:v "1015"^^xsd:decimal ]
         ] ;
         fhir:end [
           a fhir:Quantity ;
           fhir:value [ fhir:v "1016"^^xsd:decimal ]
         ]
       ]
     ]
  ] ) ; # 
  fhir:representation ( [
     fhir:focus [
       fhir:coding ( [
         fhir:system [ fhir:v "http://hl7.org/fhir/moleculardefinition-focus"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "reference-state" ] ;
         fhir:display [ fhir:v "Reference State" ]
       ] )
     ] ;
     fhir:code ( [
       fhir:coding ( [
         fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "NM_000769.4:c.991A>G" ] ;
         fhir:display [ fhir:v "NM_000769.4:c.991A>G" ]
       ] )
     ] ) ;
     fhir:literal [
       fhir:value [ fhir:v "A" ]
     ]
  ] [
     fhir:focus [
       fhir:coding ( [
         fhir:system [ fhir:v "http://hl7.org/fhir/moleculardefinition-focus"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "alternative-state" ] ;
         fhir:display [ fhir:v "Alternative State" ]
       ] )
     ] ;
     fhir:code ( [
       fhir:coding ( [
         fhir:system [ fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ] ;
         fhir:code [ fhir:v "NM_000769.4:c.991A>G" ] ;
         fhir:display [ fhir:v "NM_000769.4:c.991A>G" ]
       ] )
     ] ) ;
     fhir:literal [
       fhir:value [ fhir:v "G" ]
     ]
  ] )] . #      <representation>
#        <code>
#            <coding>
#                <system value="http://varnomen.hgvs.org"/>
#                <code value="NM_000769.4:c.991A>G"/>
#                <display value="NM_000769.4:c.991A>G"/>
#            </coding>
#        </code>
#        <literal>
#            <value value="A"/>
#        </literal>
#    </representation> 

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