Canonical Allele Identifier: PA2499291472
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007010
ClinVar RCV Id: RCV001304133
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Lys1646Gln
CA385992821
NM_025114.4:c.4936A>C