This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471150.2:p.Glu100Asp
CA406005326
ENST00000595085.5:c.300G>C
CA406005331
ENST00000595085.5:c.300G>T