Allele Registry

Canonical Allele Identifier: PA093398

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV002033600

ClinVar Variation:

1487625

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Gln346Arg	CA365009409 NM_000056.5:c.1037A>G