Allele Registry

Canonical Allele Identifier: PA2826004243

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000180182

RCV000790816

ClinVar Variation:

93336

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Arg345His	CA221177 NM_001164783.2:c.1034G>A