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"NP_003980.3:p.Arg137_Val409delinsIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696008" }, { "@id": "http://reg.genome.network/allele/PA2829480473", "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "A", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.5:c.409A>T" ], "proteinEffect": { "hgvs": "NP_003981.3:p.Arg137Ter", "hgvsWellDefined": "NP_003981.3:p.Arg137_Val432delinsIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696009" } ], "type": "nucleotide" }