Allele Registry

Canonical Allele Identifier: PA115522

Gene: BCKDHA HGNC NCBI

ClinVar Allele:

17421

ClinVar RCV:

RCV002512677

ClinVar Variation:

2382

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Cys264Trp	CA115521 NM_000709.4:c.792C>G