Allele Registry

Canonical Allele Identifier: PA2830003481

Gene: PRKAG2 HGNC NCBI

ClinVar RCV:

RCV000159016

RCV002515082

ClinVar Variation:

181480

HGVS (amino-acid)	Matching Registered Transcripts
NP_077747.1:p.Asp250His	CA013810 NM_024429.2:c.748G>C