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: PA2829098520

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2914818

ClinVar RCV Id: RCV003649062

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373091.1:p.Ile1016Val	CA357935838 NM_001386162.1:c.3046A>G