Value Sets Defined in ClinGen

This table contains a list of all the value sets defined as part of the ClinGen data model. Some of these value sets include codes defined elsewhere, some define their own codes (implicit code system), and some do both. Any implicit code systems are case sensitive, though FHIR will never define codes that only differ by case.

Namespace: http://clingen.org/dm/vs

Name Definition Source Id Usage
ancillary-amino-acid-change-type This value set includes only the types associated with amino acid allele instances. Sequence Ontology 25 core
ancillary-nucleotide-change-type This value set includes only the types associated with nucleotide allele instances. Sequence Ontology 23 core
ancillary-transcript-region-type This value set includes only the transcript associated regions that is associated with a transcript allele instance reference coordinate. Sequence Ontology 21 core
canonical-allele-complexity Codes providing the multiplicity of simple to canonical allele relationships. Internal 8 core
canonical-allele-replacement-type TBD Internal 7 core
canonical-allele-type Codes providing the type of CanonicalAllele Internal 1 core
contextual-allele-name-type Codes informing the type of ContextualAllele used. Internal 4 core
contextual-allele-relationship-type The classification of relationships between two contextual alleles. RO/Internal 3 core
contextual-allele-type Codes providing the type of ContextualAllele Internal 2 core
primary-amino-acid-change-type This value set includes only the types associated with amino acid allele instances. Sequence Ontology 24 core
primary-nucleotide-change-type This value set includes only the types associated with nucleotide allele instances. Sequence Ontology 22 core
primary-transcript-region-type This value set includes only the transcript associated regions that is associated with a transcript allele instance reference coordinate. Sequence Ontology 20 core
reference-sequence-chromosome Reference sequence notation NCBI 9 core
reference-sequence-relationship-type The relationship classification between an amino acid and transcript references. Internal/RO 6 core
reference-sequence-type Codes providing the type of a reference sequence Sequence Ontology 5 core