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_001307227.1:p.Leu230Ser
CA2579807690
NM_001320298.2:c.688_690delinsAGT
CA2579813605
NM_001320298.2:c.688_689delinsTC
CA2579813606
NM_001320298.2:c.688_690delinsTCT