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_001171479.1:p.Leu77Ser
CA410602166
NM_001178008.3:c.230T>C
CA2579806889
NM_001178008.3:c.230_231delinsCT
CA2579806890
NM_001178008.3:c.230_231delinsCC
CA2579813562
NM_001178008.3:c.229_231delinsAGT