Canonical Allele Identifier: PA645414208
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 376782
ClinVar RCV Id: RCV000428640 RCV001109868 RCV000809280 RCV001110658 RCV001275045 RCV001109869 RCV001109866 RCV001109867 RCV001252443 RCV004530521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Gln175Lys
CA6712745
NM_025114.4:c.523C>A