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
XP_024307904.1:p.Ala248Thr
CA410600592
XM_024452136.1:c.742G>A
CA2579812994
XM_024452136.1:c.742_744delinsACC
CA2579813030
XM_024452136.1:c.742_744delinsACA