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"XP_011520784.1:p.Glu242_Ala887delinsAsnSerSerGluGluLeuValSerArgLeuGluLysGluTrpMetArgAsnArgSerAlaAlaArgArgHisAsnLysAlaIleAlaPheLysArgLysGlyGlySerGlyMetLysAlaProGluThrGluProPheLeuArgGlnGluGlySerGlnTrpArgProLeuLeuLysAlaIleTrpGlnValPheHisSerThrPheLeuLeuGlyThrLeuSerLeuIleIleSerAspValPheArgPheThrValProLysLeuLeuSerLeuPheLeuGluPheIleGlyAspProLysProProAlaTrpLysGlyTyrLeuLeuAlaValLeuMetPheLeuSerAlaCysLeuGlnThrLeuPheGluGlnGlnAsnMetTyrArgLeuLysValLeuGlnMetArgLeuArgSerAlaIleThrGlyLeuValTyrArgLysValLeuAlaLeuSerSerGlySerArgLysAlaSerAlaValGlyAspValValAsnLeuValSerValAspValGlnArgLeuThrGluSerValLeuTyrLeuAsnGlyLeuTrpLeuProLeuValTrpIleValValCysPheValTyrLeuTrpGlnLeuLeuGlyProSerAlaLeuThrAlaIleAlaValPheLeuSerLeuLeuProLeuAsnPhePheIleSerLysLysArgAsnHisHisGlnGluGluGlnMetArgGlnLysAspSerArgAlaArgLeuThrSerSerIleLeuArgAsnSerLysThrIleLysPheHisGlyTrpGluGlyAlaPheLeuAspArgValLeuGlyIleArgGlyGlnGluLeuGlyAlaLeuArgThrSerGlyLeuLeuPheSerValSerLeuValSerPheGlnValSerThrPheLeuValAlaLeuValValPheAlaValHisThrLeuValAlaGluAsnAlaMetAsnAlaGluLysAlaPheValThrLeuThrValLeuAsnIleLeuAsnLysAlaGlnAlaPheLeuProPheSerIleHisSerLeuValGlnAlaArgValSerPheAspArgLeuValThrPheLeuCysLeuGluGluValAspProGlyValValAspSerSerSerSerGlySerAlaAlaGlyLysAspCysIleThrIleHisSerAlaThrPheAlaTrpSerGlnGluSerProProCysLeuHisArgIleAsnLeuThrValProGlnGlyCysLeuLeuAlaValValGlyProValGlyAlaGlyLysSerSerLeuLeuSerAlaLeuLeuGlyGluLeuSerLysValGluGlyPheValSerIleGluGlyAlaValAlaTyrValProGlnGluAlaTrpValGlnAsnThrSerValValGluAsnValCysPheGlyGlnGluLeuAspProProTrpLeuGluArgValLeuGluAlaCysAlaLeuGlnProAspValAspSerPheProGluGlyIleHisThrSerIleGlyGluGlnGlyMetAsnLeuSerGlyGlyGlnLysGlnArgLeuSerLeuAlaArgAlaValTyrArgLysAlaAlaValTyrLeuLeuAspAspProLeuAlaAlaLeuAspAlaHisValGlyGlnHisValPheAsnGlnValIleGlyProGlyGlyLeuLeuGlnGlyThrThrArgIleLeuValThrHisAlaLeuHisIleLeuProGlnAlaAspTrpIleIleValLeuAlaAsnGlyAlaIleAlaGluMetGlySerTyrGlnGluLeuLeuGlnArgLysGlyAlaLeuMetCysLeuLeuAspGlnAlaArgGlnProGlyAspArgGlyGluGlyGlyThrArgAsnArgThrTrpAspGlnHisGlnGlyProGlnArgHisLeuCysArgGlnGluAlaArgAlaTer" 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"start": 904 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.3:n.905G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610313" }, { "coordinates": [ { "allele": "A", "end": 104, "endIntronDirection": "-", "endIntronOffset": 55, "referenceAllele": "C", "start": 104, "startIntronDirection": "-", "startIntronOffset": 56 } ], "hgvs": [ "XR_933131.2:n.105-56C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610381" }, { "coordinates": [ { "allele": "A", "end": 104, "endIntronDirection": "-", "endIntronOffset": 55, "referenceAllele": "C", "start": 104, "startIntronDirection": "-", "startIntronOffset": 56 } ], "hgvs": [ "XR_933132.2:n.105-56C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610382" }, { "coordinates": [ { "allele": "T", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.724G>T" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Glu242Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.724G>T" }, "RefSeq": { "hgvs": "NM_001171.6:c.724G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Glu242Ter" }, "RefSeq": { "hgvs": "NP_001162.5:p.Glu242Ter" } } } } ], "type": "nucleotide" }