Allele Registry

Canonical Allele Identifier: PA150916

Gene: CEP290 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000114201

RCV000292636

RCV000336982

RCV000352237

RCV000399104

RCV000407985

RCV000436165

RCV001084256

RCV001826782

RCV002294031

RCV003888506

ClinVar Variation:

126262

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Arg1746Gln	CA150915 NM_025114.4:c.5237G>A