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}, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.-106G>T" ], "proteinEffect": { "hgvs": "XP_011511764.1:n.-106G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "T", "end": 90, "referenceAllele": "G", "start": 89 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.-106G>T" ], "proteinEffect": { "hgvs": "XP_011511765.1:n.-106G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "G", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.436G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA2741812096", "coordinates": [ { "allele": "T", "end": 408, "referenceAllele": "G", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.367G>T" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Glu123Ter", "hgvsWellDefined": "NP_000194.2:p.Glu123_Pro653delinsAsnGlnLeuLeuProGlyPheGluLeuMetGlySerAlaSerGlyHisPheThrAspPheGluAspLysGlnGlnValPheGluTrpLysAspLeuValSerSerLeuAlaArgArgTyrIleGlyArgTyrGlyLeuAlaHisValSerLysTrpAsnPheGluThrTrpAsnGluProAspHisHisAspPheAspAsnValSerMetThrMetGlnGlyPheLeuAsnTyrTyrAspAlaCysSerGluGlyLeuArgAlaAlaSerProAlaLeuArgLeuGlyGlyProGlyAspSerPheHisThrProProArgSerProLeuSerTrpGlyLeuLeuArgHisCysHisAspGlyThrAsnPhePheThrGlyGluAlaGlyValArgLeuAspTyrIleSerLeuHisArgLysGlyAlaArgSerSerIleSerIleLeuGluGlnGluLysValValAlaGlnGlnIleArgGlnLeuPheProLysPheAlaAspThrProIleTyrAsnAspGluAlaAspProLeuValGlyTrpSerLeuProGlnProTrpArgAlaAspValThrTyrAlaAlaMetValValLysValIleAlaGlnHisGlnAsnLeuLeuLeuAlaAsnThrThrSerAlaPheProTyrAlaLeuLeuSerAsnAspAsnAlaPheLeuSerTyrHisProHisProPheAlaGlnArgThrLeuThrAlaArgPheGlnValAsnAsnThrArgProProHisValGlnLeuLeuArgLysProValLeuThrAlaMetGlyLeuLeuAlaLeuLeuAspGluGluGlnLeuTrpAlaGluValSerGlnAlaGlyThrValLeuAspSerAsnHisThrValGlyValLeuAlaSerAlaHisArgProGlnGlyProAlaAspAlaTrpArgAlaAlaValLeuIleTyrAlaSerAspAspThrArgAlaHisProAsnArgSerValAlaValThrLeuArgLeuArgGlyValProProGlyProGlyLeuValTyrValThrArgTyrLeuAspAsnGlyLeuCysSerProAspGlyGluTrpArgArgLeuGlyArgProValPheProThrAlaGluGlnPheArgArgMetArgAlaAlaGluAspProValAlaAlaAlaProArgProLeuProAlaGlyGlyArgLeuThrLeuArgProAlaLeuArgLeuProSerLeuLeuLeuValHisValCysAlaArgProGluLysProProGlyGlnValThrArgLeuArgAlaLeuProLeuThrGlnGlyGlnLeuValLeuValTrpSerAspGluHisValGlySerLysCysLeuTrpThrTyrGluIleGlnPheSerGlnAspGlyLysAlaTyrThrProValSerArgLysProSerThrPheAsnLeuPheValPheSerProAspThrGlyAlaValSerGlySerTyrArgValArgAlaLeuAspTyrTrpAlaArgProGlyProPheSerAspProValProTyrLeuGluValProValProArgGlyProProSerProGlyAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.367G>T" }, "RefSeq": { "hgvs": "NM_000203.5:c.367G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Glu123Ter" }, "RefSeq": { "hgvs": "NP_000194.2:p.Glu123Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "G", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.-30G>T" ], "proteinEffect": { "hgvs": "NP_001350505.1:n.-30G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "T", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.160G>T" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Glu54Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "T", "end": 403, "referenceAllele": "G", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-1100G>T" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-1100G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }