Allele Registry

Canonical Allele Identifier: PA2827026581

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

102481

ClinVar RCV:

RCV000179040

ClinVar Variation:

96588

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Arg100Ser	CA224295 NM_001318975.1:c.298C>A