Allele Registry

Canonical Allele Identifier: PA354930

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000209826

ClinVar Variation:

224060

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Ile134Asn	CA354928 NM_183050.3:c.401T>A