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
ENSP00000416000.2:p.Phe45Leu
CA406004727
ENST00000457836.6:c.133T>C
CA406004731
ENST00000457836.6:c.135C>A
CA406004732
ENST00000457836.6:c.135C>G