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: PA2827825361

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1798549

ClinVar RCV Id: RCV002435520

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341198.1:p.Gln1592Lys	CA3052249 NM_001354269.3:c.4774C>A