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.Pro16Val
CA2579805889
NM_001178008.3:c.46_48delinsGTG
CA2579805890
NM_001178008.3:c.46_48delinsGTT
CA2579813518
NM_001178008.3:c.46_47delinsGT