Allele Registry

Canonical Allele Identifier: PA115511

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV001378888

ClinVar Variation:

2378

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Phe408Cys	CA115510 NM_001164783.2:c.1223T>G