Allele Registry

Canonical Allele Identifier: PA224281

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000179044

RCV002514448

RCV003317084

ClinVar Variation:

96583

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Ile160Ser	CA224280 NM_000056.5:c.479T>G