Allele Registry

Canonical Allele Identifier: PA916024153

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

102475

ClinVar RCV:

RCV000082740

RCV000529039

RCV001831888

ClinVar Variation:

96582

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Thr52Ile	CA224277 NM_001318975.1:c.155C>T