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.Ala231Leu
CA2579813038
NM_001178009.3:c.691_693delinsTTG
CA2579813039
NM_001178009.3:c.691_692delinsCT
CA2579813922
NM_001178009.3:c.691_693delinsTTA