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"NP_001350674.1:p.Arg551_Pro837delinsGluIleLeuSerAspCysAlaLeuProIleAlaValLeuAlaPheSerLeuIleSerSerHisGlyPheArgGluIleGluMetSerLysPheArgTyrAsnProSerGluSerProPheAlaMetAlaGlnIleGlnSerLeuSerLeuArgAlaValSerGlyAlaMetGlyLeuGlyPheLeuLeuSerMetLeuPhePheIleGluGlnAsnLeuValAlaAlaLeuValAsnAlaProGluAsnArgLeuValLysGlyThrAlaTyrHisTrpAspLeuLeuLeuLeuAlaIleIleAsnThrGlyLeuSerLeuPheGlyLeuProTrpIleHisAlaAlaTyrProHisSerProLeuHisValArgAlaLeuAlaLeuValGluGluArgValGluAsnGlyHisIleTyrAspThrIleValAsnValLysGluThrArgLeuThrSerLeuGlyAlaSerValLeuValGlyLeuSerLeuLeuLeuLeuProValProLeuGlnTrpIleProLysProValLeuTyrGlyLeuPheLeuTyrIleAlaLeuThrSerLeuAspGlyAsnGlnLeuValGlnArgValAlaLeuLeuLeuLysGluGlnThrAlaTyrProProThrHisTyrIleArgArgValProGlnArgLysIleHisTyrPheThrGlyLeuGlnValLeuGlnLeuLeuLeuLeuCysAlaPheGlyMetSerSerLeuProTyrMetLysMetIlePheProLeuIleMetIleAlaMetIleProIleArgTyrIleLeuLeuProArgIleIleGluAlaLysTyrLeuAspValMetAspAlaGluHisArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690763" }, { "@id": "http://reg.genome.network/allele/PA915993768", "coordinates": [ { "allele": "T", "end": 2017, "referenceAllele": "C", "start": 2016 } ], "gene": "http://reg.genome.network/gene/GN016438", "geneNCBI_id": 83959, "geneSymbol": "SLC4A11", "hgvs": [ "NM_001174090.2:c.1894C>T" ], "proteinEffect": { "hgvs": "NP_001167561.1:p.Arg632Ter", "hgvsWellDefined": "NP_001167561.1:p.Arg632_Pro918delinsGluIleLeuSerAspCysAlaLeuProIleAlaValLeuAlaPheSerLeuIleSerSerHisGlyPheArgGluIleGluMetSerLysPheArgTyrAsnProSerGluSerProPheAlaMetAlaGlnIleGlnSerLeuSerLeuArgAlaValSerGlyAlaMetGlyLeuGlyPheLeuLeuSerMetLeuPhePheIleGluGlnAsnLeuValAlaAlaLeuValAsnAlaProGluAsnArgLeuValLysGlyThrAlaTyrHisTrpAspLeuLeuLeuLeuAlaIleIleAsnThrGlyLeuSerLeuPheGlyLeuProTrpIleHisAlaAlaTyrProHisSerProLeuHisValArgAlaLeuAlaLeuValGluGluArgValGluAsnGlyHisIleTyrAspThrIleValAsnValLysGluThrArgLeuThrSerLeuGlyAlaSerValLeuValGlyLeuSerLeuLeuLeuLeuProValProLeuGlnTrpIleProLysProValLeuTyrGlyLeuPheLeuTyrIleAlaLeuThrSerLeuAspGlyAsnGlnLeuValGlnArgValAlaLeuLeuLeuLysGluGlnThrAlaTyrProProThrHisTyrIleArgArgValProGlnArgLysIleHisTyrPheThrGlyLeuGlnValLeuGlnLeuLeuLeuLeuCysAlaPheGlyMetSerSerLeuProTyrMetLysMetIlePheProLeuIleMetIleAlaMetIleProIleArgTyrIleLeuLeuProArgIleIleGluAlaLysTyrLeuAspValMetAspAlaGluHisArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713496" }, { "@id": "http://reg.genome.network/allele/PA250441", "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN016438", "geneNCBI_id": 83959, "geneSymbol": "SLC4A11", "hgvs": [ "NM_032034.4:c.1813C>T" ], "proteinEffect": { "hgvs": "NP_114423.1:p.Arg605Ter", "hgvsWellDefined": "NP_114423.1:p.Arg605_Pro891delinsGluIleLeuSerAspCysAlaLeuProIleAlaValLeuAlaPheSerLeuIleSerSerHisGlyPheArgGluIleGluMetSerLysPheArgTyrAsnProSerGluSerProPheAlaMetAlaGlnIleGlnSerLeuSerLeuArgAlaValSerGlyAlaMetGlyLeuGlyPheLeuLeuSerMetLeuPhePheIleGluGlnAsnLeuValAlaAlaLeuValAsnAlaProGluAsnArgLeuValLysGlyThrAlaTyrHisTrpAspLeuLeuLeuLeuAlaIleIleAsnThrGlyLeuSerLeuPheGlyLeuProTrpIleHisAlaAlaTyrProHisSerProLeuHisValArgAlaLeuAlaLeuValGluGluArgValGluAsnGlyHisIleTyrAspThrIleValAsnValLysGluThrArgLeuThrSerLeuGlyAlaSerValLeuValGlyLeuSerLeuLeuLeuLeuProValProLeuGlnTrpIleProLysProValLeuTyrGlyLeuPheLeuTyrIleAlaLeuThrSerLeuAspGlyAsnGlnLeuValGlnArgValAlaLeuLeuLeuLysGluGlnThrAlaTyrProProThrHisTyrIleArgArgValProGlnArgLysIleHisTyrPheThrGlyLeuGlnValLeuGlnLeuLeuLeuLeuCysAlaPheGlyMetSerSerLeuProTyrMetLysMetIlePheProLeuIleMetIleAlaMetIleProIleArgTyrIleLeuLeuProArgIleIleGluAlaLysTyrLeuAspValMetAspAlaGluHisArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728792" }, { "coordinates": [ { "allele": "T", "end": 1934, "referenceAllele": "C", "start": 1933 } ], "gene": "http://reg.genome.network/gene/GN016438", "geneNCBI_id": 83959, "geneSymbol": "SLC4A11", "hgvs": [ "NM_001400277.1:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_001387206.1:p.Arg570Ter", "hgvsWellDefined": "NP_001387206.1:p.Arg570_Pro856delinsGluIleLeuSerAspCysAlaLeuProIleAlaValLeuAlaPheSerLeuIleSerSerHisGlyPheArgGluIleGluMetSerLysPheArgTyrAsnProSerGluSerProPheAlaMetAlaGlnIleGlnSerLeuSerLeuArgAlaValSerGlyAlaMetGlyLeuGlyPheLeuLeuSerMetLeuPhePheIleGluGlnAsnLeuValAlaAlaLeuValAsnAlaProGluAsnArgLeuValLysGlyThrAlaTyrHisTrpAspLeuLeuLeuLeuAlaIleIleAsnThrGlyLeuSerLeuPheGlyLeuProTrpIleHisAlaAlaTyrProHisSerProLeuHisValArgAlaLeuAlaLeuValGluGluArgValGluAsnGlyHisIleTyrAspThrIleValAsnValLysGluThrArgLeuThrSerLeuGlyAlaSerValLeuValGlyLeuSerLeuLeuLeuLeuProValProLeuGlnTrpIleProLysProValLeuTyrGlyLeuPheLeuTyrIleAlaLeuThrSerLeuAspGlyAsnGlnLeuValGlnArgValAlaLeuLeuLeuLysGluGlnThrAlaTyrProProThrHisTyrIleArgArgValProGlnArgLysIleHisTyrPheThrGlyLeuGlnValLeuGlnLeuLeuLeuLeuCysAlaPheGlyMetSerSerLeuProTyrMetLysMetIlePheProLeuIleMetIleAlaMetIleProIleArgTyrIleLeuLeuProArgIleIleGluAlaLysTyrLeuAspValMetAspAlaGluHisArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783634" }, { "coordinates": [ { "allele": "T", "end": 1933, "referenceAllele": "C", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN016438", "geneNCBI_id": 83959, "geneSymbol": "SLC4A11", "hgvs": [ "NM_001400278.1:c.1708C>T" ], "proteinEffect": { "hgvs": "NP_001387207.1:p.Arg570Ter", "hgvsWellDefined": "NP_001387207.1:p.Arg570_Pro856delinsGluIleLeuSerAspCysAlaLeuProIleAlaValLeuAlaPheSerLeuIleSerSerHisGlyPheArgGluIleGluMetSerLysPheArgTyrAsnProSerGluSerProPheAlaMetAlaGlnIleGlnSerLeuSerLeuArgAlaValSerGlyAlaMetGlyLeuGlyPheLeuLeuSerMetLeuPhePheIleGluGlnAsnLeuValAlaAlaLeuValAsnAlaProGluAsnArgLeuValLysGlyThrAlaTyrHisTrpAspLeuLeuLeuLeuAlaIleIleAsnThrGlyLeuSerLeuPheGlyLeuProTrpIleHisAlaAlaTyrProHisSerProLeuHisValArgAlaLeuAlaLeuValGluGluArgValGluAsnGlyHisIleTyrAspThrIleValAsnValLysGluThrArgLeuThrSerLeuGlyAlaSerValLeuValGlyLeuSerLeuLeuLeuLeuProValProLeuGlnTrpIleProLysProValLeuTyrGlyLeuPheLeuTyrIleAlaLeuThrSerLeuAspGlyAsnGlnLeuValGlnArgValAlaLeuLeuLeuLysGluGlnThrAlaTyrProProThrHisTyrIleArgArgValProGlnArgLysIleHisTyrPheThrGlyLeuGlnValLeuGlnLeuLeuLeuLeuCysAlaPheGlyMetSerSerLeuProTyrMetLysMetIlePheProLeuIleMetIleAlaMetIleProIleArgTyrIleLeuLeuProArgIleIleGluAlaLysTyrLeuAspValMetAspAlaGluHisArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783635" }, { "coordinates": [ { 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"NP_001387208.1:p.Arg570_Pro856delinsGluIleLeuSerAspCysAlaLeuProIleAlaValLeuAlaPheSerLeuIleSerSerHisGlyPheArgGluIleGluMetSerLysPheArgTyrAsnProSerGluSerProPheAlaMetAlaGlnIleGlnSerLeuSerLeuArgAlaValSerGlyAlaMetGlyLeuGlyPheLeuLeuSerMetLeuPhePheIleGluGlnAsnLeuValAlaAlaLeuValAsnAlaProGluAsnArgLeuValLysGlyThrAlaTyrHisTrpAspLeuLeuLeuLeuAlaIleIleAsnThrGlyLeuSerLeuPheGlyLeuProTrpIleHisAlaAlaTyrProHisSerProLeuHisValArgAlaLeuAlaLeuValGluGluArgValGluAsnGlyHisIleTyrAspThrIleValAsnValLysGluThrArgLeuThrSerLeuGlyAlaSerValLeuValGlyLeuSerLeuLeuLeuLeuProValProLeuGlnTrpIleProLysProValLeuTyrGlyLeuPheLeuTyrIleAlaLeuThrSerLeuAspGlyAsnGlnLeuValGlnArgValAlaLeuLeuLeuLysGluGlnThrAlaTyrProProThrHisTyrIleArgArgValProGlnArgLysIleHisTyrPheThrGlyLeuGlnValLeuGlnLeuLeuLeuLeuCysAlaPheGlyMetSerSerLeuProTyrMetLysMetIlePheProLeuIleMetIleAlaMetIleProIleArgTyrIleLeuLeuProArgIleIleGluAlaLysTyrLeuAspValMetAspAlaGluHisArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783636" }, { "coordinates": [ { 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"NP_001387209.1:p.Arg594_Pro880delinsGluIleLeuSerAspCysAlaLeuProIleAlaValLeuAlaPheSerLeuIleSerSerHisGlyPheArgGluIleGluMetSerLysPheArgTyrAsnProSerGluSerProPheAlaMetAlaGlnIleGlnSerLeuSerLeuArgAlaValSerGlyAlaMetGlyLeuGlyPheLeuLeuSerMetLeuPhePheIleGluGlnAsnLeuValAlaAlaLeuValAsnAlaProGluAsnArgLeuValLysGlyThrAlaTyrHisTrpAspLeuLeuLeuLeuAlaIleIleAsnThrGlyLeuSerLeuPheGlyLeuProTrpIleHisAlaAlaTyrProHisSerProLeuHisValArgAlaLeuAlaLeuValGluGluArgValGluAsnGlyHisIleTyrAspThrIleValAsnValLysGluThrArgLeuThrSerLeuGlyAlaSerValLeuValGlyLeuSerLeuLeuLeuLeuProValProLeuGlnTrpIleProLysProValLeuTyrGlyLeuPheLeuTyrIleAlaLeuThrSerLeuAspGlyAsnGlnLeuValGlnArgValAlaLeuLeuLeuLysGluGlnThrAlaTyrProProThrHisTyrIleArgArgValProGlnArgLysIleHisTyrPheThrGlyLeuGlnValLeuGlnLeuLeuLeuLeuCysAlaPheGlyMetSerSerLeuProTyrMetLysMetIlePheProLeuIleMetIleAlaMetIleProIleArgTyrIleLeuLeuProArgIleIleGluAlaLysTyrLeuAspValMetAspAlaGluHisArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783637" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN016438", "geneNCBI_id": 83959, "geneSymbol": "SLC4A11", "hgvs": [ "NR_174470.1:n.2338C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS784917" }, { "coordinates": [ { "allele": "T", "end": 2323, "referenceAllele": "C", "start": 2322 } ], "gene": "http://reg.genome.network/gene/GN016438", "geneNCBI_id": 83959, "geneSymbol": "SLC4A11", "hgvs": [ "NR_174471.1:n.2323C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS784918" } ], "type": "nucleotide" }