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"NP_001273038.1:p.Tyr98_Ser360delinsProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682141" }, { "@id": "http://reg.genome.network/allele/PA2826706855", "coordinates": [ { "allele": "G", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.2:c.366C>G" ], "proteinEffect": { "hgvs": "NP_001273039.1:p.Tyr122Ter", "hgvsWellDefined": "NP_001273039.1:p.Tyr122_Ser384delinsProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682142" } ], "type": "nucleotide" }