Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828533795

Gene: VDR HGNC NCBI

Linked Data

ClinVar Variation Id: 882575

ClinVar RCV Id: RCV001112342 RCV001856486

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361590.1:p.Pro374Arg	CA6533742 NM_001374661.1:c.1121C>G