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: PA2827824991

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_001341198.1:p.Val1008Met	CA16611578 NM_001354269.3:c.3022G>A