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.Met1294Ile
CA6712061
ENST00000675230.1:c.3882G>A
CA386000451
ENST00000675230.1:c.3882G>T
CA386000452
ENST00000675230.1:c.3882G>C