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"coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN012736", "geneNCBI_id": 7456, "geneSymbol": "WIPF1", "hgvs": [ "NM_001375836.1:c.709C>T" ], "proteinEffect": { "hgvs": "NP_001362765.1:p.Gln237Ter", "hgvsWellDefined": "NP_001362765.1:p.Gln237_Val403delinsSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyMetThrArgArgGlyValSerCysPheGlnAsnProAlaCysProAsnValProIleIleLeuSerValLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693915" }, { "@id": "http://reg.genome.network/allele/PA2828633036", "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "C", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN012736", "geneNCBI_id": 7456, "geneSymbol": "WIPF1", "hgvs": [ "NM_001375837.1:c.709C>T" ], "proteinEffect": { "hgvs": "NP_001362766.1:p.Gln237Ter", "hgvsWellDefined": "NP_001362766.1:p.Gln237_Val403delinsSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyMetThrArgArgGlyValSerCysPheGlnAsnProAlaCysProAsnValProIleIleLeuSerValLysIleValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693916" }, { "@id": "http://reg.genome.network/allele/PA2828633217", "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": 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"http://reg.genome.network/gene/GN012736", "geneNCBI_id": 7456, "geneSymbol": "WIPF1", "hgvs": [ "NM_001375839.1:c.331C>T" ], "proteinEffect": { "hgvs": "NP_001362768.1:p.Gln111Ter", "hgvsWellDefined": "NP_001362768.1:p.Gln111_Arg377delinsSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693918" }, { "@id": "http://reg.genome.network/allele/PA1139709875", "coordinates": [ { "allele": 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"NP_003378.3:p.Gln237_Arg503delinsSerProLeuSerSerSerSerProPheSerAsnArgProProLeuProProThrProSerArgAlaLeuAspAspLysProProProProProProProValGlyAsnArgProSerIleHisArgGluAlaValProProProProProGlnAsnAsnLysProProValProSerThrProArgProSerAlaSerSerGlnAlaProProProProProProProSerArgProGlyProProProLeuProProSerSerSerGlyAsnAspGluThrProArgLeuProGlnArgAsnLeuSerLeuSerSerSerThrProProLeuProSerProGlyArgSerGlyProLeuProProProProSerGluArgProProProProValArgAspProProGlyArgSerGlyProLeuProProProProProValSerArgAsnGlySerThrSerArgAlaLeuProAlaThrProGlnLeuProSerArgSerGlyValAspSerProArgSerGlyProArgProProLeuProProAspArgProSerAlaGlyAlaProProProProProProSerThrSerIleArgAsnGlyPheGlnAspSerProCysGluAspGluTrpGluSerArgPheTyrPheHisProIleSerAspLeuProProProGluProTyrValGlnThrThrLysSerTyrProSerLysLeuAlaArgAsnGluSerArgSerGlySerAsnArgArgGluArgGlyAlaProProLeuProProIleProArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695810" } ], "type": "nucleotide" }