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_001307227.1:p.Asp234Leu
CA2579811530
NM_001320298.2:c.700_702delinsCTT
CA2579811531
NM_001320298.2:c.700_702delinsTTG
CA2579811532
NM_001320298.2:c.700_702delinsCTG
CA2579813834
NM_001320298.2:c.700_702delinsCTA
CA2579813835
NM_001320298.2:c.700_702delinsTTA
CA2579813836
NM_001320298.2:c.700_701delinsCT