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: PA2829104522

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1316070

ClinVar RCV Id: RCV001757517

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373104.1:p.Ser2718Pro	CA357932903 NM_001386175.1:c.8152T>C