Allele Registry

Canonical Allele Identifier: PA915988924

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000209016

ClinVar Variation:

204378

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Arg159Gln	CA354907 NM_001164783.2:c.476G>A