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"XP_011511761.1:p.Gln101_Pro675delinsValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysValArgProAlaProProSerAlaProValPheCysAlaLeuSerArgCysAlaProGlyArgAlaAspProGlyGlyAlaGluAlaAlaProProAlaGlyCysAlaGlnLeuHisLeuHisProGlyAlaGlyGluGlyArgArgAlaAlaAspProAlaAlaLeuProGlnValArgGlyHisProHisLeuGlnArgArgGlyGlyProAlaGlyGlyLeuValProAlaThrAlaValGluGlyGlyArgAspLeuArgGlyHisGlyGlyGluGlyGlyProAlaGlnArgProAlaArgProProAlaThrPheLeuProArgArgAspArgArgAlaValAlaAlaProProGlyProSerCysProGlyHisProGlnValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.298C>T" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Gln100Ter", "hgvsWellDefined": "XP_011511762.1:p.Gln101_Pro606delinsValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "T", "end": 499, "referenceAllele": "C", "start": 498 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.232C>T" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gln78Ter", "hgvsWellDefined": "XP_011511763.1:p.Gln79_Pro584delinsValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.151C>T" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Gln51Ter", "hgvsWellDefined": "XP_011511764.1:p.Gln52_Pro557delinsValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "T", "end": 346, "referenceAllele": "C", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.151C>T" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Gln51Ter", "hgvsWellDefined": "XP_011511765.1:p.Gln52_Pro557delinsValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "T", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.508C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA2825082275", "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.439C>T" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Gln147Ter", "hgvsWellDefined": "NP_000194.2:p.Gln148_Pro653delinsValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.439C>T" }, "RefSeq": { "hgvs": "NM_000203.5:c.439C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Gln147Ter" }, "RefSeq": { "hgvs": "NP_000194.2:p.Gln147Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139741348", "coordinates": [ { "allele": "T", "end": 495, "referenceAllele": "C", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.43C>T" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Gln15Ter", "hgvsWellDefined": "NP_001350505.1:p.Gln16_Pro521delinsValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.232C>T" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Gln78Ter", "hgvsWellDefined": "XP_011511763.1:p.Gln79_Pro584delinsValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-1028C>T" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-1028C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }