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"NP_060352.1:p.Trp56_His311delinsValLeuAspPheGlyArgProIleAlaMetLeuValPheProLeuGluTrpPheProLeuAsnLysProSerValGlyAspTyrPheHisMetAlaTyrAsnValIleThrProPheLeuLeuLeuLysLeuIleGluArgSerProArgThrLeuProArgSerIleThrTyrValSerIleIleIlePheIleMetGlyAlaSerIleHisLeuValGlyAspSerValAsnHisArgLeuLeuPheSerGlyTyrGlnHisHisLeuSerValArgGluAsnProIleIleLysAsnLeuLysProGluThrLeuIleAspSerPheGluLeuLeuTyrTyrTyrAspGluTyrLeuGlyHisCysMetTrpTyrIleProPhePheLeuIleLeuPheMetTyrPheSerGlyCysPheThrAlaSerLysAlaGluSerLeuIleProGlyProAlaLeuLeuLeuValAlaProSerGlyLeuTyrTyrTrpTyrLeuValThrGluGlyGlnIlePheIleLeuPheIlePheThrPhePheAlaMetLeuAlaLeuValLeuHisGlnLysArgLysArgLeuPheLeuAspSerAsnGlyLeuPheLeuPheSerSerPheAlaLeuThrLeuLeuLeuValAlaLeuTrpValAlaTrpLeuTrpAsnAspProValLeuArgLysLysTyrProGlyValIleTyrValProGluProTrpAlaPheTyrThrLeuHisValSerSerArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS035274" }, { "coordinates": [ { "allele": "A", "end": 271, "referenceAllele": "G", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN002077", "geneNCBI_id": 54982, "geneSymbol": "CLN6", "hgvs": [ "XR_931861.1:n.271G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127936" }, { "@id": "http://reg.genome.network/allele/PA645452637", "coordinates": [ { "allele": "A", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN002077", "geneNCBI_id": 54982, "geneSymbol": "CLN6", "hgvs": [ "NM_017882.3:c.168G>A" ], "proteinEffect": { "hgvs": "NP_060352.1:p.Trp56Ter", "hgvsWellDefined": "NP_060352.1:p.Trp56_His311delinsValLeuAspPheGlyArgProIleAlaMetLeuValPheProLeuGluTrpPheProLeuAsnLysProSerValGlyAspTyrPheHisMetAlaTyrAsnValIleThrProPheLeuLeuLeuLysLeuIleGluArgSerProArgThrLeuProArgSerIleThrTyrValSerIleIleIlePheIleMetGlyAlaSerIleHisLeuValGlyAspSerValAsnHisArgLeuLeuPheSerGlyTyrGlnHisHisLeuSerValArgGluAsnProIleIleLysAsnLeuLysProGluThrLeuIleAspSerPheGluLeuLeuTyrTyrTyrAspGluTyrLeuGlyHisCysMetTrpTyrIleProPhePheLeuIleLeuPheMetTyrPheSerGlyCysPheThrAlaSerLysAlaGluSerLeuIleProGlyProAlaLeuLeuLeuValAlaProSerGlyLeuTyrTyrTrpTyrLeuValThrGluGlyGlnIlePheIleLeuPheIlePheThrPhePheAlaMetLeuAlaLeuValLeuHisGlnLysArgLysArgLeuPheLeuAspSerAsnGlyLeuPheLeuPheSerSerPheAlaLeuThrLeuLeuLeuValAlaLeuTrpValAlaTrpLeuTrpAsnAspProValLeuArgLysLysTyrProGlyValIleTyrValProGluProTrpAlaPheTyrThrLeuHisValSerSerArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS669413", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000249806.11:c.168G>A" }, "RefSeq": { "hgvs": "NM_017882.3:c.168G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000249806.5:p.Trp56Ter" }, "RefSeq": { "hgvs": "NP_060352.1:p.Trp56Ter" } } } } ], "type": "nucleotide" }