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: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000381225.1:p.[Asp281_Glu283del;Ser285Trp;Leu287_Glu289delinsProLysGly;Glu291_Asn294delinsSerSer;Thr296_Gly305delinsSerArgArgSer;Gly307_Ile311del]
CA2580099020
ENST00000398158.5:c.837_841dup