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: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000448573.2:p.[Asp588_Lys598del;Gln600_Tyr604del;Ile606del;Cys609Ter]
CA144388
ENST00000547926.6:c.1758_1759del
CA241149837
ENST00000547926.6:c.1762_1763del