Registry Human Genome Variation Society Nomenclature
Metaregistry Human Genome Variation Society Nomenclature

The metaregistry provides mappings between the Bioregistry and other registries. There are 2 mappings to external registries for this resource with 2 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
HL7 HL7 External Code Systems logo hl7 2.16.840.1.113883.6.282
Wikidata Wikidata Property logo wikidata P3331
Providers

Providers are various services that resolve CURIEs to URLs. The example CURIE hgvs:NP_003997.1:p.Trp24Cys is used to demonstrate the provides available for this resource. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URI
Human Genome Variation Society Nomenclature hgvs http://reg.clinicalgenome.org/allele?hgvs=NP_003997.1:p.Trp24Cys
Bioregistry bioregistry https://bioregistry.io/hgvs:NP_003997.1:p.Trp24Cys
Extra Providers

Additional providers curated in the Bioregistry are listed here.

Code Name URL
mutalyzer LUMC Mutalyzer 3 https://mutalyzer.nl/api/description_to_model/NP_003997.1:p.Trp24Cys