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  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1013179",
        "RCV": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS743612",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS253007"
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    {
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        {
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS077622"
    },
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508660.1:p.Arg1615_Val2328delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4291,
          "referenceAllele": "C",
          "start": 4290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_011510359.1:c.4204C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011508661.1:p.Arg1402_Val2158delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2659,
          "referenceAllele": "C",
          "start": 2658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_011510360.1:c.2644C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508662.1:p.Arg882Ter",
        "hgvsWellDefined": "XP_011508662.1:p.Arg882_Val1638delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2650,
          "referenceAllele": "C",
          "start": 2649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_011510361.1:c.2635C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508663.1:p.Arg879Ter",
        "hgvsWellDefined": "XP_011508663.1:p.Arg879_Val1635delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4754,
          "referenceAllele": "C",
          "start": 4753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_011510357.2:c.4714C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508659.1:p.Arg1572Ter",
        "hgvsWellDefined": "XP_011508659.1:p.Arg1572_Val2328delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4883,
          "referenceAllele": "C",
          "start": 4882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_011510358.2:c.4843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508660.1:p.Arg1615Ter",
        "hgvsWellDefined": "XP_011508660.1:p.Arg1615_Val2328delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2707,
          "referenceAllele": "C",
          "start": 2706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_011510360.2:c.2644C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508662.1:p.Arg882Ter",
        "hgvsWellDefined": "XP_011508662.1:p.Arg882_Val1638delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_011510361.2:c.2635C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508663.1:p.Arg879Ter",
        "hgvsWellDefined": "XP_011508663.1:p.Arg879_Val1635delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4883,
          "referenceAllele": "C",
          "start": 4882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_017004317.1:c.4843C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859806.1:p.Arg1615Ter",
        "hgvsWellDefined": "XP_016859806.1:p.Arg1615_Arg2293delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrAsnGlyLeuArgCysAsnArgCysLeuThrTrpGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4605,
          "referenceAllele": "C",
          "start": 4604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "XM_024452961.1:c.4204C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308729.1:p.Arg1402Ter",
        "hgvsWellDefined": "XP_024308729.1:p.Arg1402_Val2158delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499282040",
      "coordinates": [
        {
          "allele": "T",
          "end": 4873,
          "referenceAllele": "C",
          "start": 4872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "NM_015909.4:c.4843C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056993.2:p.Arg1615Ter",
        "hgvsWellDefined": "NP_056993.2:p.Arg1615_Val2371delinsHisGluHisGluAlaTrpProGluAspLeuIleSerLeuThrLysGlnLeuHisCysTyrAsnGluArgLeuLeuAspPheThrGlnAlaGlnIleLeuGlnGlyLeuArgLysGlyValAspValGlnArgPheThrAlaAspAspGlnTyrLysArgGluThrIleLeuGlyLeuAlaGluThrLeuGluGluSerValTyrSerIleAlaIleSerLeuAlaGlnArgTyrSerValSerArgTrpGluValPheMetThrHisLeuGluPheLeuPheThrAspSerGlyLeuSerThrLeuGluIleGluAsnArgAlaGlnAspLeuHisLeuPheGluThrLeuLysThrAspProGluAlaPheHisGlnHisMetValLysTyrIleTyrProThrIleGlyGlyPheAspHisGluArgLeuGlnTyrTyrPheThrLeuLeuGluAsnCysGlyCysAlaAspLeuGlyAsnCysAlaIleLysProGluThrHisIleArgLeuLeuLysLysPheLysValValAlaSerGlyLeuAsnTyrLysLysLeuThrAspGluAsnMetSerProLeuGluAlaLeuGluProValLeuSerSerGlnAsnIleLeuSerIleSerLysLeuValProLysIleProGluLysAspGlyGlnMetLeuSerProSerSerLeuTyrThrIleTrpLeuGlnLysLeuPheTrpThrGlyAspProHisLeuIleLysGlnValProGlySerSerProGluTrpLeuHisAlaTyrAspValCysMetLysTyrPheAspArgLeuHisProGlyAspLeuIleThrValValAspAlaValThrPheSerProLysAlaValThrLysLeuSerValGluAlaArgLysGluMetThrArgLysAlaIleLysThrValLysHisPheIleGluLysProArgLysArgAsnSerGluAspGluAlaGlnGluAlaLysAspSerLysValThrTyrAlaAspThrLeuAsnHisLeuGluLysSerLeuAlaHisLeuGluThrLeuSerHisSerPheIleLeuSerLeuLysAsnSerGluGlnGluThrLeuGlnLysTyrSerHisLeuTyrAspLeuSerArgSerGluLysGluLysLeuHisAspGluAlaValAlaIleCysLeuAspGlyGlnProLeuAlaMetIleGlnGlnLeuLeuGluValAlaValGlyProLeuAspIleSerProLysAspIleValGlnSerAlaIleMetLysIleIleSerAlaLeuSerGlyGlySerAlaAspLeuGlyGlyProArgAspProLeuLysValLeuGluGlyValValAlaAlaValHisAlaSerValAspLysGlyGluGluLeuValSerProGluAspLeuLeuGluTrpLeuArgProPheCysAlaAspAspAlaTrpProValArgProArgIleHisValLeuGlnIleLeuGlyGlnSerPheHisLeuThrGluGluAspSerLysLeuLeuValPhePheArgThrGluAlaIleLeuLysAlaSerTrpProGlnArgGlnValAspIleAlaAspIleGluAsnGluGluAsnArgTyrCysLeuPheMetGluLeuLeuGluSerSerHisHisGluAlaGluPheGlnHisLeuValLeuLeuLeuGlnAlaTrpProProMetLysSerGluTyrValIleThrAsnAsnProTrpValArgLeuAlaThrValMetLeuThrArgCysThrMetGluAsnLysGluGlyLeuGlyAsnGluValLeuLysMetCysArgSerLeuTyrAsnThrLysGlnMetLeuProAlaGluGlyValLysGluLeuCysLeuLeuLeuLeuAsnGlnSerLeuLeuLeuProSerLeuLysLeuLeuLeuGluSerArgAspGluHisLeuHisGluMetAlaLeuGluGlnIleThrAlaValThrThrValAsnAspSerAsnCysAspGlnGluLeuLeuSerLeuLeuLeuAspAlaLysLeuLeuValLysCysValSerThrProPheTyrProArgIleValAspHisLeuLeuAlaSerLeuGlnGlnGlyArgTrpAspAlaGluGluLeuGlyArgHisLeuArgGluAlaGlyHisGluAlaGluAlaGlySerLeuLeuLeuAlaValArgGlyThrHisGlnAlaPheArgThrPheSerThrAlaLeuArgAlaAlaGlnHisTrpValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668888",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281513.10:c.4843C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015909.4:c.4843C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281513.5:p.Arg1615Ter"
          },
          "RefSeq": {
            "hgvs": "NP_056993.2:p.Arg1615Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4873,
          "referenceAllele": "C",
          "start": 4872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "NR_052013.3:n.4873C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702613"
    }
  ],
  "type": "nucleotide"
}