Allele Registry

Canonical Allele Identifier: PA645414208

Gene: CEP290 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000428640

RCV000809280

RCV001109866

RCV001109867

RCV001109868

RCV001109869

RCV001110658

RCV001252443

RCV001275045

RCV004530521

ClinVar Variation:

376782

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Gln175Lys	CA6712745 NM_025114.4:c.523C>A