Canonical Allele Identifier: PA916054585
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 695268
ClinVar RCV Id: RCV000860704 RCV001111807 RCV001111804 RCV001111805 RCV001111806 RCV001112276 RCV001275033 RCV001546810 RCV004538174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ala697Gly
CA6712401
NM_025114.4:c.2090C>G