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.Leu287Pro
CA410600127
NM_001178008.3:c.860T>C
CA2579807602
NM_001178008.3:c.860_861delinsCT
CA2579807603
NM_001178008.3:c.860_861delinsCA