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: PA2580245856

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1765013

ClinVar RCV Id: RCV002376022 RCV003448460

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373103.1:p.Pro3014Ala	CA357935780 NM_001386174.1:c.9040C>G