Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000502503.1:p.His1612Gln	CA385992987 ENST00000675230.1:c.4836T>G CA385992988 ENST00000675230.1:c.4836T>A