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: PA2828533579

Gene: VDR HGNC NCBI

Linked Data

ClinVar Variation Id: 308887

ClinVar RCV Id: RCV000601968 RCV000988816 RCV001512350 RCV003992273

ClinVar Variation Id: 1909890

ClinVar RCV Id: RCV002587605

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361590.1:p.Met1Thr	CA2580085458 NM_001374661.1:c.2_3delinsCA