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.Asp494Ser
CA2579811190
NM_001178008.3:c.1480_1482delinsAGT
CA2579811191
NM_001178008.3:c.1480_1482delinsTCG
CA2579811192
NM_001178008.3:c.1480_1481delinsTC