Canonical Allele Identifier: PA645414315
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 241583
ClinVar RCV Id: RCV000228050 RCV000763866 RCV001271583 RCV002274949 RCV002518359 RCV003227727 RCV004529413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Val851Ile
CA6712316
NM_025114.4:c.2551G>A