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_000700.1:p.Ser339Arg
CA406013779
NM_000709.4:c.1015A>C
CA406013785
NM_000709.4:c.1017T>A
CA406013786
NM_000709.4:c.1017T>G