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.Ser227Val
CA2579804592
NM_001178008.3:c.679_680delinsGT
CA2579804593
NM_001178008.3:c.679_681delinsGTT
CA2579804594
NM_001178008.3:c.679_681delinsGTG