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: PA2829096226

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_001373089.1:p.Val1027Met	CA16611578 NM_001386160.1:c.3079G>A