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.[Ala211_Ala212delinsGly;Glu214_Asp216delinsGln;His218_Pro230del;Ile232_Ile242del]
CA2814427392
ENST00000542943.5:c.631dup