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
ENSP00000269980.2:p.Gln44del
CA308515228
ENST00000269980.7:c.127C>T
CA406004503
ENST00000269980.7:c.121C>T
CA406004525
ENST00000269980.7:c.124C>T
CA406004562
ENST00000269980.7:c.130C>T
CA2336453760
ENST00000269980.7:c.130_132del