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.Asp116Ser
CA2579811989
NM_001321072.1:c.346_348delinsAGT
CA2579811990
NM_001321072.1:c.346_348delinsTCG
CA2579811991
NM_001321072.1:c.346_347delinsTC
CA2579811992
NM_001321072.1:c.346_348delinsTCT