Canonical Allele Identifier: PA2580461399
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 2158381
ClinVar RCV Id: RCV003069739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu125Lys
CA385987454
NM_025114.4:c.373G>A