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.His2179Gln
CA6711473
ENST00000675230.1:c.6537T>G
CA385978301
ENST00000675230.1:c.6537T>A