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"XP_024306647.1:p.Arg295_Val648delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgValTyrAlaArgIleTyrProCysArgGlnAspTrpLeuGlnThrTrpGlyLeuGlnAlaLeuGlnAsnGluAsnValArgAlaLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584408" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450880.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_024306648.1:p.Arg295Ter", "hgvsWellDefined": "XP_024306648.1:p.Arg295_Ala637delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584409" }, { "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450881.1:c.769C>T" ], "proteinEffect": { "hgvs": "XP_024306649.1:p.Arg257Ter", "hgvsWellDefined": "XP_024306649.1:p.Arg257_Ala611delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584410" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450882.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_024306650.1:p.Arg295Ter", "hgvsWellDefined": "XP_024306650.1:p.Arg295_Ala593delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584411" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450883.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_024306651.1:p.Arg295Ter", "hgvsWellDefined": "XP_024306651.1:p.Arg295_Gly545delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysAlaAlaThrLysSerArgArgArgProGlyGlyGlyGlyGlyArgGlySerSerGlyGlyArgArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584412" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450884.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_024306652.1:p.Arg295Ter", "hgvsWellDefined": "XP_024306652.1:p.Arg295_Gly545delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysAlaAlaThrLysSerArgArgArgProGlyGlyGlyGlyGlyArgGlySerSerGlyGlyArgArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584413" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450885.1:c.454C>T" ], "proteinEffect": { "hgvs": "XP_024306653.1:p.Arg152Ter", "hgvsWellDefined": "XP_024306653.1:p.Arg152_Ala506delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584414" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450886.1:c.454C>T" ], "proteinEffect": { "hgvs": "XP_024306654.1:p.Arg152Ter", "hgvsWellDefined": "XP_024306654.1:p.Arg152_Ala506delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584415" }, { "@id": "http://reg.genome.network/allele/PA645469991", "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_023036.6:c.883C>T" ], "proteinEffect": { "hgvs": "NP_075462.3:p.Arg295Ter", "hgvsWellDefined": "NP_075462.3:p.Arg295_Ala605delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670544", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311014.11:c.883C>T" }, "RefSeq": { "hgvs": "NM_023036.6:c.883C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308312.6:p.Arg295Ter" }, "RefSeq": { "hgvs": "NP_075462.3:p.Arg295Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826081982", "coordinates": [ { "allele": "T", "end": 1003, "referenceAllele": "C", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001172810.3:c.883C>T" ], "proteinEffect": { "hgvs": "NP_001166281.1:p.Arg295Ter", "hgvsWellDefined": "NP_001166281.1:p.Arg295_Ala593delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678795" }, { "@id": "http://reg.genome.network/allele/PA2827712152", "coordinates": [ { "allele": "T", "end": 1006, "referenceAllele": "C", "start": 1005 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001353167.2:c.883C>T" ], "proteinEffect": { "hgvs": "NP_001340096.1:p.Arg295Ter", "hgvsWellDefined": "NP_001340096.1:p.Arg295_Ala649delinsLysMetSerGluProThrGluValValIleLeuAspIleThrLysLysGluGlnLeuGluAsnAlaLeuGlyAlaIleSerLeuGluPheGluSerThrLeuProThrLysPheMetValGlyThrGluGlnGlyIleValIleSerCysAsnArgLysAlaLysThrSerAlaGluLysIleValCysThrPheProGlyHisHisGlyProIleTyrAlaLeuGlnArgAsnProPheTyrProLysAsnPheLeuThrValGlyAspTrpThrAlaArgIleTrpSerGluAspSerArgGluSerSerIleMetTrpThrLysTyrHisMetAlaTyrLeuThrAspAlaAlaTrpSerProValArgProThrValPhePheThrThrArgMetAspGlyThrLeuAspIleTrpAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689609" }, { "coordinates": [ { "allele": "T", "end": 884, "referenceAllele": "C", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NR_148379.2:n.884C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704721" } ], "type": "nucleotide" }