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.Ala231Thr
CA410600592
NM_001178008.3:c.691G>A
CA2579812994
NM_001178008.3:c.691_693delinsACC
CA2579813030
NM_001178008.3:c.691_693delinsACA