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: PA2829104572

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2539950

ClinVar RCV Id: RCV004309578

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373104.1:p.Asp2785Ala	CA357933538 NM_001386175.1:c.8354A>C