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See the Directory of published versions
Example MolecularDefinition/example-sequence-cyp2c19-gene-region (Turtle)
Raw Turtle (+ also see Turtle/RDF Format Specification)
Example of Sequence profile of CYP2C19 gene region
@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-sequence-cyp2c19-gene-region"] ; #
fhir:meta [
fhir:profile ( [
fhir:v "http://hl7.org/fhir/StructureDefinition/sequence"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/StructureDefinition/sequence>
] )
] ; #
fhir:type [ fhir:v "dna"] ; #
fhir:representation ( [
fhir:extracted [
fhir:startingMolecule [
fhir:reference [ fhir:v "MolecularDefinition/example-sequence-cyp2c19-accession" ] ;
fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
fhir:display [ fhir:v "Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), RefSeqGene (LRG_584) on chromosome 10" ]
] ;
fhir:start [ fhir:v "5001"^^xsd:integer ] ;
fhir:end [ fhir:v "97867"^^xsd:integer ] ;
fhir:coordinateSystem [
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:reverseComplement [ fhir:v "false"^^xsd:boolean ]
]
] )] . #
# -------------------------------------------------------------------------------------
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.