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.Leu115Arg
CA410600753
NM_001321072.1:c.344T>G
CA2579807731
NM_001321072.1:c.343_345delinsAGG
CA2579807732
NM_001321072.1:c.344_345delinsGG
CA2579807733
NM_001321072.1:c.344_345delinsGT