Allele Registry

Canonical Allele Identifier: PA2827026745

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV002033600

ClinVar Variation:

1487625

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Gln276Arg	CA365009409 NM_001318975.1:c.827A>G