Allele Registry

Canonical Allele Identifier: PA645419753

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000498242

RCV000530607

RCV003419842

ClinVar Variation:

432059

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Pro332Leu	CA365009178 NM_183050.3:c.995C>T