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
ENSP00000344460.5:p.Ser500Leu
CA321686665
ENST00000352178.9:c.1499C>T
CA2579805303
ENST00000352178.9:c.1498_1499delinsCT
CA2579813453
ENST00000352178.9:c.1498_1500delinsCTT