Allele Registry

Canonical Allele Identifier: PA2827026734

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000498242

RCV000530607

RCV003419842

ClinVar Variation:

432059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Pro262Leu	CA365009178 NM_001318975.1:c.785C>T