Allele Registry

Canonical Allele Identifier: PA221178

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000180182

RCV000790816

ClinVar Variation:

93336

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Arg346His	CA221177 NM_000709.4:c.1037G>A