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_001171480.1:p.Ser387Thr
CA410397828
NM_001178009.3:c.1160G>C
CA2579804940
NM_001178009.3:c.1160_1161delinsCT
CA2579804941
NM_001178009.3:c.1160_1161delinsCG