Allele Registry

Canonical Allele Identifier: PA916024160

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000179044

RCV002514448

RCV003317084

ClinVar Variation:

96583

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Ile90Ser	CA224280 NM_001318975.1:c.269T>G