Allele Registry

Canonical Allele Identifier: PA224278

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

102475

ClinVar RCV:

RCV000082740

RCV000529039

RCV001831888

ClinVar Variation:

96582

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Thr122Ile	CA224277 NM_000056.5:c.365C>T