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.Ala126Thr
CA410600592
NM_001321072.1:c.376G>A
CA2579812994
NM_001321072.1:c.376_378delinsACC
CA2579813030
NM_001321072.1:c.376_378delinsACA