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.Lys394Ser
CA2579806183
NM_001320298.2:c.1180_1181delinsTC
CA2579806184
NM_001320298.2:c.1181_1182delinsGT
CA2579806186
NM_001320298.2:c.1180_1182delinsTCT