Allele Registry

Canonical Allele Identifier: PA645414349

Gene: CEP290 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

332983

ClinVar RCV:

RCV000276434

RCV000289191

RCV000327895

RCV000333827

RCV000381363

RCV000557002

RCV001074452

RCV001273076

RCV001555535

RCV001590930

RCV002520840

RCV004544543

ClinVar Variation:

310606

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Arg1264Cys	CA6712084 NM_025114.4:c.3790C>T