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.Arg230Ser
CA308524141
ENST00000595085.5:c.690G>T
CA406012738
ENST00000595085.5:c.690G>C