Canonical Allele Identifier: PA2573286572
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511539
ClinVar RCV Id: RCV002016789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Leu1644Gln
CA6711829
NM_025114.4:c.4931T>A