Allele Registry

Canonical Allele Identifier: PA2825039396

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

1015362

ClinVar RCV:

RCV001328417

RCV001381550

ClinVar Variation:

1027626

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Ala137Glu	CA364660495 NM_000056.5:c.410C>A