Allele Registry

Canonical Allele Identifier: PA354929

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

225786

ClinVar RCV:

RCV000209826

ClinVar Variation:

224060

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Ile134Asn	CA354928 NM_000056.5:c.401T>A