Allele Registry

Canonical Allele Identifier: PA915988932

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000351654

RCV001859557

ClinVar Variation:

282250

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Arg189Cys	CA10604119 NM_001164783.2:c.565C>T