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Example MolecularDefinition/example-allelesliced-cyp2c19-1016 (Turtle)
Raw Turtle (+ also see Turtle/RDF Format Specification)
Example of Allele profile including slices for CYP2C19 position 1016
@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-allelesliced-cyp2c19-1016"] ; #
fhir:meta [
fhir:profile ( [
fhir:v "http://hl7.org/fhir/StructureDefinition/allelesliced"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/StructureDefinition/allelesliced>
] )
] ; #
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:LA30102-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA30102-0" ] ;
fhir:display [ fhir:v "1-based character counting" ]
] ) ;
fhir:text [ fhir:v "1-based character counting" ]
] ;
fhir:start [
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 "allele-state" ] ;
fhir:display [ fhir:v "Allele State" ]
] )
] ;
fhir:code ( [
fhir:coding ( [
fhir:system [ fhir:v "https://www.pharmvar.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "*1" ] ;
fhir:display [ fhir:v "*1" ]
] )
] ) ;
fhir:literal [
fhir:value [ fhir:v "G" ]
]
] [
fhir:focus [
fhir:coding ( [
fhir:system [ fhir:v "http://hl7.org/fhir/moleculardefinition-focus"^^xsd:anyURI ] ;
fhir:code [ fhir:v "context-state" ] ;
fhir:display [ fhir:v "Context State" ]
] )
] ;
fhir:literal [
fhir:value [ fhir:v "A" ]
]
] )] . #
# -------------------------------------------------------------------------------------
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.