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
ENSP00000447527.3:p.Met100Ile
CA385987836
ENST00000552770.3:c.300G>T
CA385987844
ENST00000552770.3:c.300G>C
CA385987845
ENST00000552770.3:c.300G>A