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
ENSP00000502503.1:p.Gln1129His
CA241167712
ENST00000675230.1:c.3387A>C
CA386004134
ENST00000675230.1:c.3387A>T