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
ENSP00000381231.4:p.Glu416Thr
CA2579809908
ENST00000398165.8:c.1246_1248delinsACT
CA2579813757
ENST00000398165.8:c.1246_1247delinsAC