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_001308001.1:p.Glu294Leu
CA2579810394
NM_001321072.1:c.880_882delinsCTT
CA2579810395
NM_001321072.1:c.880_881delinsCT
CA2579810397
NM_001321072.1:c.880_881delinsTT