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
ENSP00000502559.1:p.[Leu1907_Glu1908delinsTrp;Gln1910_Leu1916delinsAsp;Val1918_Lys1919del;Phe1921_Ile1924del;Leu1926_Gln1927delinsSer;Gln1929_Glu1930del;His1932_Val1936del]
CA2620107578
ENST00000675833.1:c.5720del