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: PA2827800622

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2014830

ClinVar RCV Id: RCV002839160

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341173.1:p.Glu1058Lys	CA357935863 NM_001354244.2:c.3172G>A