Allele Registry

Canonical Allele Identifier: PA2499248430

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

1015362

ClinVar RCV:

RCV001328417

RCV001381550

ClinVar Variation:

1027626

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Ala67Glu	CA364660495 NM_001318975.1:c.200C>A