Allele Registry

Canonical Allele Identifier: PA110289

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV001378888

ClinVar Variation:

2378

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Phe409Cys	CA115510 NM_000709.4:c.1226T>G