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"XP_024306647.1:p.Trp292_Val648delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgValTyrAlaArgIleTyrProCysArgGlnAspTrpLeuGlnThrTrpGlyLeuGlnAlaLeuGlnAsnGluAsnValArgAlaLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584408" }, { "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "G", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450880.1:c.876G>A" ], "proteinEffect": { "hgvs": "XP_024306648.1:p.Trp292Ter", "hgvsWellDefined": "XP_024306648.1:p.Trp292_Ala637delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584409" }, { "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "G", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450881.1:c.762G>A" ], "proteinEffect": { "hgvs": "XP_024306649.1:p.Trp254Ter", "hgvsWellDefined": "XP_024306649.1:p.Trp254_Ala611delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584410" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450882.1:c.876G>A" ], "proteinEffect": { "hgvs": "XP_024306650.1:p.Trp292Ter", "hgvsWellDefined": "XP_024306650.1:p.Trp292_Ala593delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584411" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450883.1:c.876G>A" ], "proteinEffect": { "hgvs": "XP_024306651.1:p.Trp292Ter", "hgvsWellDefined": "XP_024306651.1:p.Trp292_Gly545delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysAlaAlaThrLysSerArgArgArgProGlyGlyGlyGlyGlyArgGlySerSerGlyGlyArgArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584412" }, { "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450884.1:c.876G>A" ], "proteinEffect": { "hgvs": "XP_024306652.1:p.Trp292Ter", "hgvsWellDefined": "XP_024306652.1:p.Trp292_Gly545delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysAlaAlaThrLysSerArgArgArgProGlyGlyGlyGlyGlyArgGlySerSerGlyGlyArgArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584413" }, { "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450885.1:c.447G>A" ], "proteinEffect": { "hgvs": "XP_024306653.1:p.Trp149Ter", "hgvsWellDefined": "XP_024306653.1:p.Trp149_Ala506delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584414" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450886.1:c.447G>A" ], "proteinEffect": { "hgvs": "XP_024306654.1:p.Trp149Ter", "hgvsWellDefined": "XP_024306654.1:p.Trp149_Ala506delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584415" }, { "@id": "http://reg.genome.network/allele/PA645469990", "coordinates": [ { "allele": "A", "end": 999, "referenceAllele": "G", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_023036.6:c.876G>A" ], "proteinEffect": { "hgvs": "NP_075462.3:p.Trp292Ter", "hgvsWellDefined": "NP_075462.3:p.Trp292_Ala605delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670544", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311014.11:c.876G>A" }, "RefSeq": { "hgvs": "NM_023036.6:c.876G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308312.6:p.Trp292Ter" }, "RefSeq": { "hgvs": "NP_075462.3:p.Trp292Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826081975", "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001172810.3:c.876G>A" ], "proteinEffect": { "hgvs": "NP_001166281.1:p.Trp292Ter", "hgvsWellDefined": "NP_001166281.1:p.Trp292_Ala593delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678795" }, { "@id": "http://reg.genome.network/allele/PA2827712150", "coordinates": [ { "allele": "A", "end": 999, "referenceAllele": "G", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001353167.2:c.876G>A" ], "proteinEffect": { "hgvs": "NP_001340096.1:p.Trp292Ter", "hgvsWellDefined": "NP_001340096.1:p.Trp292_Ala649delinsAspIleArgLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689609" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NR_148379.2:n.877G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704721" } ], "type": "nucleotide" }