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: PA2825367834

Gene: PRKAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6855

ClinVar RCV Id: RCV000007258 RCV000159017 RCV000211740

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035723.1:p.Glu462Gln	CA013833 NM_001040633.2:c.1384G>C