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.Gln193Pro
CA410600060
NM_001321072.1:c.578A>C
CA2579810732
NM_001321072.1:c.578_579delinsCT
CA2579813816
NM_001321072.1:c.578_579delinsCA