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.[Arg111_Glu116delinsAla;Cys118_Gln126delinsGlyPheTyrValMet;Asp128_Glu130delinsPheAlaAsn;Glu132_Glu135del;Glu137_Glu139delinsAsnAsn]
CA2572758562
ENST00000675833.1:c.329_330insAGCAA