Canonical Allele Identifier: PA645414238
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 261825
ClinVar RCV Id: RCV000244107 RCV001113799 RCV001109774 RCV001113800 RCV001113801 RCV001113802 RCV001275038 RCV001311004 RCV000860381
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Amino-acid Alleles

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