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}, "referenceSequence": "http://reg.genome.network/refseq/RS015394" }, { "@id": "http://reg.genome.network/allele/PA915991987", "coordinates": [ { "allele": "A", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_001171934.1:c.1056G>A" ], "proteinEffect": { "hgvs": "NP_001165405.1:p.Trp352Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS015395" }, { "@id": "http://reg.genome.network/allele/PA261800", "coordinates": [ { "allele": "A", "end": 8166, "referenceAllele": "G", "start": 8165 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.5:c.7776G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Trp2592Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS037218" }, { "coordinates": [ { "allele": "A", "end": 8214, "referenceAllele": "G", "start": 8213 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717940.2:c.7971G>A" ], "proteinEffect": { "hgvs": "XP_006718003.1:p.Trp2657Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS072393" }, { "coordinates": [ { "allele": "A", "end": 8148, "referenceAllele": "G", "start": 8147 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_006717942.2:c.7905G>A" ], "proteinEffect": { "hgvs": "XP_006718005.1:p.Trp2635Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS106996" }, { "coordinates": [ { "allele": "A", "end": 6804, "referenceAllele": "G", "start": 6803 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "XM_011540047.1:c.6789G>A" ], "proteinEffect": { "hgvs": "XP_011538349.1:p.Trp2263Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS107002" }, { "@id": "http://reg.genome.network/allele/PA261800", "coordinates": [ { "allele": "A", "end": 8180, "referenceAllele": "G", "start": 8179 } ], "gene": "http://reg.genome.network/gene/GN013733", "geneNCBI_id": 64072, "geneSymbol": "CDH23", "hgvs": [ "NM_022124.6:c.7776G>A" ], "proteinEffect": { "hgvs": "NP_071407.4:p.Trp2592Ter", "hgvsWellDefined": "NP_071407.4:p.Trp2592_Leu3354delinsGlyThrThrMetLeuLeuValGluValIleAspValAsnAspAsnArgProValPheValArgProProAsnGlyThrIleLeuHisIleArgGluGluIleProLeuArgSerAsnValTyrGluValTyrAlaThrAspLysAspGluGlyLeuAsnGlyAlaValArgTyrSerPheLeuLysThrAlaGlyAsnArgAspTrpGluPhePheIleIleAspProIleSerGlyLeuIleGlnThrAlaGlnArgLeuAspArgGluSerGlnAlaValTyrSerLeuIleLeuValAlaSerAspLeuGlyGlnProValProTyrGluThrMetGlnProLeuGlnValAlaLeuGluAspIleAspAspAsnGluProLeuPheValArgProProLysGlySerProGlnTyrGlnLeuLeuThrValProGluHisSerProArgGlyThrLeuValGlyAsnValThrGlyAlaValAspAlaAspGluGlyProAsnAlaIleValTyrTyrPheIleAlaAlaGlyAsnGluGluLysAsnPheHisLeuGlnProAspGlyCysLeuLeuValLeuArgAspLeuAspArgGluArgGluAlaIlePheSerPheIleValLysAlaSerSerAsnArgSerTrpThrProProArgGlyProSerProThrLeuAspLeuValAlaAspLeuThrLeuGlnGluValArgValValLeuGluAspIleAsnAspGlnProProArgPheThrLysAlaGluTyrThrAlaGlyValAlaThrAspAlaLysValGlySerGluLeuIleGlnValLeuAlaLeuAspAlaAspIleGlyAsnAsnSerLeuValPheTyrSerIleLeuAlaIleHisTyrPheArgAlaLeuAlaAsnAspSerGluAspValGlyGlnValPheThrMetGlySerMetAspGlyIleLeuArgThrPheAspLeuPheMetAlaTyrSerProGlyTyrPheValValAspIleValAlaArgAspLeuAlaGlyHisAsnAspThrAlaIleIleGlyIleTyrIleLeuArgAspAspGlnArgValLysIleValIleAsnGluIleProAspArgValArgGlyPheGluGluGluPheIleHisLeuLeuSerAsnIleThrGlyAlaIleValAsnThrAspAsnValGlnPheHisValAspLysLysGlyArgValAsnPheAlaGlnThrGluLeuLeuIleHisValValAsnArgAspThrAsnArgIleLeuAspValAspArgValIleGlnMetIleAspGluAsnLysGluGlnLeuArgAsnLeuPheArgAsnTyrAsnValLeuAspValGlnProAlaIleSerValArgLeuProAspAspMetSerAlaLeuGlnMetAlaIleIleValLeuAlaIleLeuLeuPheLeuAlaAlaMetLeuPheValLeuMetAsnTrpTyrTyrArgThrValHisLysArgLysLeuLysAlaIleValAlaGlySerAlaGlyAsnArgGlyPheIleAspIleMetAspMetProAsnThrAsnLysTyrSerPheAspGlyAlaAsnProValTrpLeuAspProPheCysArgAsnLeuGluLeuAlaAlaGlnAlaGluHisGluAspAspLeuProGluAsnLeuSerGluIleAlaAspLeuTrpAsnSerProThrArgThrHisGlyThrPheGlyArgGluProAlaAlaValLysProAspAspAspArgTyrLeuArgAlaAlaIleGlnGluTyrAspAsnIleAlaLysLeuGlyGlnIleIleArgGluGlyProIleLysGlySerLeuLeuLysValValLeuGluAspTyrLeuArgLeuLysLysLeuPheAlaGlnArgMetValGlnLysAlaSerSerCysHisSerSerIleSerGluLeuIleGlnThrGluLeuAspGluGluProGlyAspHisSerProGlyGlnGlySerLeuArgPheArgHisLysProProValGluLeuLysGlyProAspGlyIleHisValValHisGlySerThrGlyThrLeuLeuAlaThrAspLeuAsnSerLeuProGluGluAspGlnLysGlyLeuGlyArgSerLeuGluThrLeuThrAlaAlaGluAlaThrAlaPheGluArgAsnAlaArgThrGluSerAlaLysSerThrProLeuHisLysLeuArgAspValIleMetGluThrProLeuGluIleThrGluLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698509", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000224721.12:c.7776G>A" }, "RefSeq": { "hgvs": "NM_022124.6:c.7776G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000224721.9:p.Trp2592Ter" }, "RefSeq": { "hgvs": "NP_071407.4:p.Trp2592Ter" } } } } ], "type": "nucleotide" }