Allele Registry

Canonical Allele Identifier: PA915988964

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000224751

RCV002282065

ClinVar Variation:

235750

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Tyr279Cys	CA9461267 NM_001164783.2:c.836A>G