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"http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674142.1:n.372G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774159" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674634.2:c.285G>A" ], "proteinEffect": { "hgvs": "ENSP00000502629.2:p.Trp95Ter", "hgvsWellDefined": "ENSP00000502629.2:p.Trp95_Ser362delinsMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetLeuValIleGlyAsnPheGlyLeuSerTrpAsnGlnGlnValThrGlnMetAlaLeuTrpAlaIleMetAlaAlaProLeuPheMetSerAsnAspLeuArgHisIleSerProGlnAlaLysAlaLeuLeuGlnAspLysAspValIleAlaIleAsnGlnAspProLeuGlyLysGlnGlyTyrGlnLeuArgGlnValAsnLysSerIleTyrPheLysMetAlaLeuTyrThrGlnTyrGlnLeuCysLeuGlyProLysSerIlePhePheProCysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774573" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675592.1:c.285G>A" ], "proteinEffect": { "hgvs": "ENSP00000502239.1:p.Trp95Ter", "hgvsWellDefined": "ENSP00000502239.1:p.Trp95_Leu363delinsMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspGlyTyrLysHisMetSerLeuAlaLeuAsnArgThrGlyArgSerIleValTyrSerCysGluTrpProLeuTyrMetTrpProPheGlnLysProAsnTyrThrGluIleArgGlnTyrCysAsnHisTrpArgAsnPheAlaAspIleAspAspSerTrpLysSerIleLysSerIleLeuAspTrpThrSerPheAsnGlnGluArgIleValAspValAlaGlyProGlyGlyTrpAsnAspProAspMetGlyAspAsnPheGluValTrpGluArgProLeuSerGlyLeuAlaTrpAlaValAlaMetIleAsnArgGlnGluIleGlyGlyProArgSerTyrThrIleAlaValAlaSerLeuGlyLysGlyValAlaCysAsnProAlaCysPheIleThrGlnLeuLeuProValLysArgLysLeuGlyPheTyrGluTrpThrSerArgLeuArgSerHisIleAsnProThrGlyThrValLeuLeuGlnLeuGluAsnThrMetGlnMetSerLeuLysAspLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775388" }, { "coordinates": [ { "allele": "A", "end": 344, "referenceAllele": "G", "start": 343 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675799.1:c.285G>A" ], "proteinEffect": { "hgvs": "ENSP00000502661.1:p.Trp95Ter", "hgvsWellDefined": "ENSP00000502661.1:p.Trp95_Cys199delinsMetAlaProGlnArgAspSerGluGlyArgLeuGlnAlaAspProGlnArgPheProHisGlyIleArgGlnLeuAlaAsnTyrValHisSerLysGlyLeuLysLeuGlyIleTyrAlaAspValGlyAsnLysThrCysAlaGlyPheProGlySerPheGlyTyrTyrAspIleAspAlaGlnThrPheAlaAspTrpGlyValAspLeuLeuLysPheAspGlyCysTyrCysAspSerLeuGluAsnLeuAlaAspAlaGlnLeuTyrArgAsnProThrValLeuGlnSerLeuAlaLysPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775570" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675968.1:n.346G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775716" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "G", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000676156.1:c.285G>A" ], "proteinEffect": { "hgvs": "ENSP00000501730.1:p.Trp95Ter", "hgvsWellDefined": 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