Allele Registry

Canonical Allele Identifier: PA224285

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000179046

ClinVar Variation:

96584

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Glu163Val	CA224283 NM_183050.3:c.488A>T