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.Phe513Leu
CA6712524
ENST00000675230.1:c.1537T>C
CA385979414
ENST00000675230.1:c.1539T>G
CA385979416
ENST00000675230.1:c.1539T>A