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: PA2829105237

Gene: ANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1795522

ClinVar RCV Id: RCV002439332 RCV003102171

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373104.1:p.Ile3750Val	CA3052234 NM_001386175.1:c.11248A>G