Allele Registry

Canonical Allele Identifier: PA179861

Gene: CEP290 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

177143

ClinVar RCV:

RCV000152980

RCV000658663

RCV000988890

RCV001084283

RCV001110567

RCV001110568

RCV001110569

RCV001110570

RCV001110571

RCV001275040

RCV002294046

ClinVar Variation:

166838

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Arg360Gln	CA179860 NM_025114.4:c.1079G>A