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"NP_001007594.2:p.Arg417_Cys630delinsGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675298" }, { "@id": "http://reg.genome.network/allele/PA916022229", "coordinates": [ { "allele": "T", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318087.2:c.1252C>T" ], "proteinEffect": { "hgvs": "NP_001305016.1:p.Arg418Ter", "hgvsWellDefined": "NP_001305016.1:p.Arg418_Lys508delinsGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProValSerProThrSerLeuGlnValThrValCysThrLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684426" }, { "@id": "http://reg.genome.network/allele/PA2826978999", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001318088.2:c.331C>T" ], "proteinEffect": { "hgvs": "NP_001305017.1:p.Arg111Ter", "hgvsWellDefined": "NP_001305017.1:p.Arg111_Cys324delinsGlyAspLysValHisIleIleGlyHisIleProProGlyHisCysLeuLysSerTrpSerTrpAsnTyrTyrArgIleValAlaArgTyrGluAsnThrLeuAlaAlaGlnPhePheGlyHisThrHisValAspGluPheGluValPheTyrAspGluGluThrLeuSerArgProLeuAlaValAlaPheLeuAlaProSerAlaThrThrTyrIleGlyLeuAsnProGlyTyrArgValTyrGlnIleAspGlyAsnTyrSerGlySerSerHisValValLeuAspHisGluThrTyrIleLeuAsnLeuThrGlnAlaAsnIleProGlyAlaIleProHisTrpGlnLeuLeuTyrArgAlaArgGluThrTyrGlyLeuProAsnThrLeuProThrAlaTrpHisAsnLeuValTyrArgMetArgGlyAspMetGlnLeuPheGlnThrPheTrpPheLeuTyrHisLysGlyHisProProSerGluProCysGlyThrProCysArgLeuAlaThrLeuCysAlaGlnLeuSerAlaArgAlaAspSerProAlaLeuCysArgHisLeuMetProAspGlySerLeuProGluAlaGlnSerLeuTrpProArgProLeuPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684427" }, { "coordinates": [ { "allele": "T", "end": 1256, "endIntronDirection": "-", "endIntronOffset": 240, "referenceAllele": "C", "start": 1256, "startIntronDirection": "-", "startIntronOffset": 241 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NM_001365135.2:c.1132-241C>T" ], "proteinEffect": { "hgvs": "NP_001352064.1:n.1132-241C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690988" }, { "coordinates": [ { "allele": "T", "end": 1216, "endIntronDirection": "-", "endIntronOffset": 240, "referenceAllele": "C", "start": 1216, "startIntronDirection": "-", "startIntronOffset": 241 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_027400.3:n.1217-241C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS701945" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN011120", "geneNCBI_id": 6609, "geneSymbol": "SMPD1", "hgvs": [ "NR_134502.2:n.724C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703473" } ], "type": "nucleotide" }