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.Leu287Val
CA410600130
NM_001178009.3:c.859C>G
CA2579807599
NM_001178009.3:c.859_861delinsGTT
CA2579807601
NM_001178009.3:c.859_861delinsGTG