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_011528079.1:p.Ala48Leu
CA2579812513
XM_011529777.2:c.142_144delinsTTG
CA2579812515
XM_011529777.2:c.142_143delinsCT