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.Met419Ile
CA406015419
ENST00000457836.6:c.1257G>A
CA406015420
ENST00000457836.6:c.1257G>C
CA406015421
ENST00000457836.6:c.1257G>T