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: PA2827750580

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406483

ClinVar RCV Id: RCV000472961

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341154.1:p.Val1083Met	CA16611578 NM_001354225.2:c.3247G>A