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.Pro427Leu
CA321746
ENST00000352178.9:c.1280C>T
CA2579805633
ENST00000352178.9:c.1280_1281delinsTA
CA2579805634
ENST00000352178.9:c.1280_1281delinsTT
CA2579805635
ENST00000352178.9:c.1279_1280delinsTT
CA2579805636
ENST00000352178.9:c.1280_1281delinsTC