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
NP_001308001.1:p.Glu335Leu
CA2579809817
NM_001321072.1:c.1003_1004delinsCT
CA2579809818
NM_001321072.1:c.1003_1004delinsTT
CA2579809819
NM_001321072.1:c.1003_1005delinsCTT