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: PA2827814279

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67605

ClinVar RCV Id: RCV000058354

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001341189.1:p.Val646Met