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}, "referenceSequence": "http://reg.genome.network/refseq/RS571556" }, { "coordinates": [ { "allele": "T", "end": 4566, "referenceAllele": "G", "start": 4565 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XM_017019983.2:c.4222G>T" ], "proteinEffect": { "hgvs": "XP_016875472.1:p.Glu1408Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS571557" }, { "coordinates": [ { "allele": "T", "end": 5448, "referenceAllele": "G", "start": 5447 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748869.1:n.5448G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596808" }, { "coordinates": [ { "allele": "T", "end": 5448, "referenceAllele": "G", "start": 5447 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "XR_001748870.2:n.5448G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596809" }, { "coordinates": [ { "allele": "T", "end": 4459, "referenceAllele": "G", "start": 4458 } ], "gene": "http://reg.genome.network/gene/GN029021", "geneNCBI_id": 80184, "geneSymbol": "CEP290", "hgvs": [ "NM_025114.4:c.4243G>T" ], "proteinEffect": { "hgvs": "NP_079390.3:p.Glu1415Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS698816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000552810.6:c.4243G>T" }, "RefSeq": { "hgvs": "NM_025114.4:c.4243G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000448012.1:p.Glu1415Ter" }, "RefSeq": { "hgvs": "NP_079390.3:p.Glu1415Ter" } } } } ], "type": "nucleotide" }