Canonical Allele Identifier: PA645414206
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310628
ClinVar RCV Id: RCV000263394 RCV000285505 RCV000316286 RCV000355828 RCV000373256 RCV000637006 RCV000787814 RCV001275046 RCV003330639 RCV003888725 RCV004537752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg168His
CA6712768
NM_025114.4:c.503G>A