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
ENSP00000308021.7:p.Gln1593His
CA385993487
ENST00000309041.11:c.4779G>T
CA385993490
ENST00000309041.11:c.4779G>C