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.Arg1233Ser
CA385969367
ENST00000675833.1:c.3699G>T
CA385969369
ENST00000675833.1:c.3699G>C