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.Leu125Ser
CA2579807690
NM_001321072.1:c.373_375delinsAGT
CA2579813605
NM_001321072.1:c.373_374delinsTC
CA2579813606
NM_001321072.1:c.373_375delinsTCT