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: PA915959144

Gene: PRKAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 487637

ClinVar RCV Id: RCV000656222 RCV001176900 RCV002060545 RCV003480704 RCV004024590 RCV004001217

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035723.1:p.Arg76His	CA056900 NM_001040633.2:c.227G>A