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"http://reg.genome.network/allele/PA2827581264", "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "C", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350966.2:c.920C>A" ], "proteinEffect": { "hgvs": "NP_001337895.1:p.Ser307Ter", "hgvsWellDefined": "NP_001337895.1:p.Ser307_Leu499delinsGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": 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"A", "end": 1704, "referenceAllele": "C", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.2:n.1704C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703126" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "C", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146961.2:n.1445C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704456" } ], "type": "nucleotide" }