Allele Registry

Canonical Allele Identifier: PA224346

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

102503

ClinVar RCV:

RCV000082769

RCV003522925

ClinVar Variation:

96610

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Thr273Pro	CA224344 NM_183050.3:c.817A>C