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.Thr194Arg
CA410600052
NM_001321072.1:c.581C>G
CA2579804097
NM_001321072.1:c.580_582delinsCGT
CA2579804098
NM_001321072.1:c.581_582delinsGG
CA2579804099
NM_001321072.1:c.580_582delinsCGG