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.Glu108Leu
CA2579810035
NM_001321072.1:c.322_323delinsTT
CA2579810036
NM_001321072.1:c.322_324delinsTTG
CA2579810037
NM_001321072.1:c.322_324delinsCTT
CA2579810038
NM_001321072.1:c.322_324delinsCTG
CA2579813778
NM_001321072.1:c.322_323delinsCT