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: PA2829102283

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207943

ClinVar RCV Id: RCV000190220

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373103.1:p.Ile2097Thr	CA204256 NM_001386174.1:c.6290T>C