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_011528077.1:p.Glu193Arg
CA2579810160
XM_011529775.1:c.577_578delinsAG
CA2579810161
XM_011529775.1:c.577_578delinsCG
CA2579810162
XM_011529775.1:c.577_579delinsCGT