Allele Registry

Canonical Allele Identifier: PA645414393

Gene: CEP290 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000246283

RCV000297940

RCV000338834

RCV000342377

RCV000391752

RCV000402056

RCV000514061

RCV001084053

RCV001828148

ClinVar Variation:

261849

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Ile1836Val	CA6711707 NM_025114.4:c.5506A>G