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
XP_016875472.1:p.Met1294Ile
CA6712061
XM_017019983.2:c.3882G>A
CA386000451
XM_017019983.2:c.3882G>T
CA386000452
XM_017019983.2:c.3882G>C