Allele Registry

Canonical Allele Identifier: PA645414238

Gene: CEP290 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

254763

ClinVar RCV:

RCV000244107

RCV000860381

RCV001109774

RCV001113799

RCV001113800

RCV001113801

RCV001113802

RCV001275038

RCV001311004

ClinVar Variation:

261825

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Asp433Gly	CA6712583 NM_025114.4:c.1298A>G