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.Ser227Thr
CA410600633
NM_001178008.3:c.680G>C
CA2579804597
NM_001178008.3:c.680_681delinsCG
CA2579804598
NM_001178008.3:c.680_681delinsCT