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.Asp234Arg
CA2579811540
NM_001178008.3:c.700_702delinsCGT
CA2579811541
NM_001178008.3:c.700_702delinsAGG
CA2579811542
NM_001178008.3:c.700_702delinsCGG