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: PA2829084948

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519481

ClinVar RCV Id: RCV000619233

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373078.1:p.Lys1028Glu	CA357935992 NM_001386149.1:c.3082A>G