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_011528078.1:p.Ser191Leu
CA2579804747
XM_011529776.1:c.571_573delinsTTG
CA2579804748
XM_011529776.1:c.571_573delinsCTG
CA2579804749
XM_011529776.1:c.571_573delinsCTT