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_011528084.1:p.Glu514Leu
CA2579809741
XM_011529782.1:c.1540_1541delinsCT
CA2579809742
XM_011529782.1:c.1540_1541delinsTT