Canonical Allele Identifier: PA2573286528
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1497083
ClinVar RCV Id: RCV001992214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Lys1576Glu
CA385993940
NM_025114.4:c.4726A>G