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
NP_001158255.1:p.Asp339Glu
CA406013793
NM_001164783.2:c.1017C>A
CA406013794
NM_001164783.2:c.1017C>G