Canonical Allele Identifier: PA2573096090
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329677
ClinVar RCV Id: RCV001799985
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Gln1205Lys
CA386001185
NM_025114.4:c.3613C>A