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
ENSP00000440345.1:p.[Arg40del;Gln42_Gly56delinsAlaAla;Ser58del;Glu60Val;Asp63_Ile68delinsSerGly]
CA2831039048
ENST00000542943.5:c.116_117insA