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.Leu230Val
CA410600603
NM_001178008.3:c.688C>G
CA2579807686
NM_001178008.3:c.688_690delinsGTA
CA2579807687
NM_001178008.3:c.688_690delinsGTT