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"http://reg.genome.network/refseq/RS722477" }, { "coordinates": [ { "allele": "T", "end": 925, "endIntronDirection": "-", "endIntronOffset": 6505, "referenceAllele": "C", "start": 925, "startIntronDirection": "-", "startIntronOffset": 6506 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382634.1:c.820-6506C>T" ], "proteinEffect": { "hgvs": "NP_001369563.1:n.820-6506C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS722478" }, { "@id": "http://reg.genome.network/allele/PA2828910817", "coordinates": [ { "allele": "T", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382635.1:c.826C>T" ], "proteinEffect": { "hgvs": "NP_001369564.1:p.Gln276Ter", "hgvsWellDefined": "NP_001369564.1:p.Gln276_His494delinsLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722479" }, { "@id": "http://reg.genome.network/allele/PA2828910997", "coordinates": [ { "allele": "T", "end": 651, "referenceAllele": "C", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382636.1:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001369565.1:p.Gln171Ter", "hgvsWellDefined": "NP_001369565.1:p.Gln171_His389delinsLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722480" } ], "type": "nucleotide" }