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"XP_016878701.1:p.Trp1185_Val1447delinsThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574012" }, { "coordinates": [ { "allele": "A", "end": 3941, "referenceAllele": "G", "start": 3940 } ], "gene": 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"http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932836.2:n.3903G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610311" }, { "coordinates": [ { "allele": "A", "end": 3703, "referenceAllele": "G", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932837.3:n.3703G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610312" }, { "coordinates": [ { "allele": "A", "end": 3703, "referenceAllele": "G", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.3:n.3703G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610313" }, { "@id": "http://reg.genome.network/allele/PA2573066706", "coordinates": [ { "allele": "A", "end": 3782, "referenceAllele": "G", "start": 3781 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.3722G>A" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Trp1241Ter", "hgvsWellDefined": "NP_001162.5:p.Trp1241_Val1503delinsThrProLysGluAlaProTrpArgLeuProThrCysAlaAlaGlnProProTrpProGlnGlyGlyGlnIleGluPheArgAspPheGlyLeuArgTyrArgProGluLeuProLeuAlaValGlnGlyValSerPheLysIleHisAlaGlyGluLysValGlyIleValGlyArgThrGlyAlaGlyLysSerSerLeuAlaSerGlyLeuLeuArgLeuGlnGluAlaAlaGluGlyGlyIleTrpIleAspGlyValProIleAlaHisValGlyLeuHisThrLeuArgSerArgIleSerIleIleProGlnAspProIleLeuPheProGlySerLeuArgMetAsnLeuAspLeuLeuGlnGluHisSerAspGluAlaIleTrpAlaAlaLeuGluThrValGlnLeuLysAlaLeuValAlaSerLeuProGlyGlnLeuGlnTyrLysCysAlaAspArgGlyGluAspLeuSerValGlyGlnLysGlnLeuLeuCysLeuAlaArgAlaLeuLeuArgLysThrGlnIleLeuIleLeuAspGluAlaThrAlaAlaValAspProGlyThrGluLeuGlnMetGlnAlaMetLeuGlySerTrpPheAlaGlnCysThrValLeuLeuIleAlaHisArgLeuArgSerValMetAspCysAlaArgValLeuValMetAspLysGlyGlnValAlaGluSerGlySerProAlaGlnLeuLeuAlaGlnLysGlyLeuPheTyrArgLeuAlaGlnGluSerGlyLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.3722G>A" }, "RefSeq": { "hgvs": "NM_001171.6:c.3722G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Trp1241Ter" }, "RefSeq": { "hgvs": "NP_001162.5:p.Trp1241Ter" } } } } ], "type": "nucleotide" }