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      "proteinEffect": {
        "hgvs": "NP_001193775.1:p.Arg1019Ter",
        "hgvsWellDefined": "NP_001193775.1:p.Arg1019_Tyr1892delinsGlyIleGluLeuSerAspGluHisGlyAsnThrIleLeuSerLysAspIleValAspArgHisArgGluLysThrLeuArgLeuLeuTrpLysIleAlaPheAlaPheGlnValAspIleSerLeuAsnLeuAspGlnLeuLysGluGluIleAlaPheLeuLysHisThrLysSerIleLysLysThrIleSerLeuLeuSerCysHisSerAspAspLeuIleAsnLysLysLysGlyLysArgAspSerGlySerPheGluGlnTyrSerGluAsnIleLysLeuLeuMetAspTrpValAsnAlaValCysAlaPheTyrAsnLysLysValGluAsnPheThrValSerPheSerAspGlyArgValLeuCysTyrLeuIleHisHisTyrHisProCysTyrValProPheAspAlaIleCysGlnArgThrThrGlnThrValGluCysThrGlnThrGlySerValValLeuAsnSerSerSerGluSerAspAspSerSerLeuAspMetSerLeuLysAlaPheAspHisGluAsnThrSerGluLeuTyrLysGluLeuLeuGluAsnGluLysLysAsnPheHisLeuValArgSerAlaValArgAspLeuGlyGlyIleProAlaMetIleAsnHisSerAspMetSerAsnThrIleProAspGluLysValValIleThrTyrLeuSerPheLeuCysAlaArgLeuLeuAspLeuArgLysGluIleArgAlaAlaArgLeuIleGlnThrThrTrpArgLysTyrLysLeuLysThrAspLeuLysArgHisGlnGluArgGluLysAlaAlaArgIleIleGlnLeuAlaValIleAsnPheLeuAlaLysGlnArgLeuArgLysArgValAsnAlaAlaLeuValIleGlnLysTyrTrpArgArgValLeuAlaGlnArgLysLeuLeuMetLeuLysLysGluLysLeuGluLysValGlnAsnLysAlaAlaSerLeuIleGlnAlaMetTrpArgArgTyrArgAlaLysLysTyrLeuCysLysValLysAlaAlaCysLysIleGlnAlaTrpTyrArgCysTrpArgAlaHisLysGluTyrLeuAlaIleLeuLysAlaValLysIleIleGlnGlyCysPheTyrThrLysLeuGluArgThrArgPheLeuAsnValArgAlaSerAlaIleIleIleGlnArgLysTrpArgAlaIleLeuProAlaLysIleAlaHisGluHisPheLeuMetIleLysArgHisArgAlaAlaCysLeuIleGlnAlaHisTyrArgGlyTyrLysGlyArgGlnValPheLeuArgGlnLysSerAlaAlaLeuIleIleGlnLysTyrIleArgAlaArgGluAlaGlyLysHisGluArgIleLysTyrIleGluPheLysLysSerThrValIleLeuGlnAlaLeuValArgGlyTrpLeuValArgLysArgPheLeuGluGlnArgAlaLysIleArgLeuLeuHisPheThrAlaAlaAlaTyrTyrHisLeuAsnAlaValArgIleGlnArgAlaTyrLysLeuTyrLeuAlaValLysAsnAlaAsnLysGlnValAsnSerValIleCysIleGlnArgTrpPheArgAlaArgLeuGlnGluLysArgPheIleGlnLysTyrHisSerIleLysLysIleGluHisGluGlyGlnGluCysLeuSerGlnArgAsnArgAlaAlaSerValIleGlnLysAlaValArgHisPheLeuLeuArgLysLysGlnGluLysPheThrSerGlyIleIleLysIleGlnAlaLeuTrpArgGlyTyrSerTrpArgLysLysAsnAspCysThrLysIleLysAlaIleArgLeuSerLeuGlnValValAsnArgGluIleArgGluGluAsnLysLeuTyrLysArgThrAlaLeuAlaLeuHisTyrLeuLeuThrTyrLysHisLeuSerAlaIleLeuGluAlaLeuLysHisLeuGluValValThrArgLeuSerProLeuCysCysGluAsnMetAlaGlnSerGlyAlaIleSerLysIlePheValLeuIleArgSerCysAsnArgSerIleProCysMetGluValIleArgTyrAlaValGlnValLeuLeuAsnValSerLysTyrGluLysThrThrSerAlaValTyrAspValGluAsnCysIleAspIleLeuLeuGluLeuLeuGlnIleTyrArgGluLysProGlyAsnLysValAlaAspLysGlyGlySerIlePheThrLysThrCysCysLeuLeuAlaIleLeuLeuLysThrThrAsnArgAlaSerAspValArgSerArgSerLysValValAspArgIleTyrSerLeuTyrLysLeuThrAlaHisLysHisLysMetAsnThrGluArgIleLeuTyrLysGlnLysLysAsnSerSerIleSerIleProPheIleProGluThrProValArgThrArgIleValSerArgLeuLysProAspTrpValLeuArgArgAspAsnMetGluGluIleThrAsnProLeuGlnAlaIleGlnMetValMetAspThrLeuGlyIleProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3312,
          "referenceAllele": "C",
          "start": 3311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.4:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:p.Arg1019Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3287,
          "referenceAllele": "C",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_018136.5:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060606.3:p.Arg1019Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367409.9:c.3055C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018136.5:c.3055C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356379.4:p.Arg1019Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060606.3:p.Arg1019Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826287487",
      "coordinates": [
        {
          "allele": "T",
          "end": 3287,
          "referenceAllele": "C",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019048",
      "geneNCBI_id": 259266,
      "geneSymbol": "ASPM",
      "hgvs": [
        "NM_001206846.2:c.3055C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193775.1:p.Arg1019Ter",
        "hgvsWellDefined": "NP_001193775.1:p.Arg1019_Tyr1892delinsGlyIleGluLeuSerAspGluHisGlyAsnThrIleLeuSerLysAspIleValAspArgHisArgGluLysThrLeuArgLeuLeuTrpLysIleAlaPheAlaPheGlnValAspIleSerLeuAsnLeuAspGlnLeuLysGluGluIleAlaPheLeuLysHisThrLysSerIleLysLysThrIleSerLeuLeuSerCysHisSerAspAspLeuIleAsnLysLysLysGlyLysArgAspSerGlySerPheGluGlnTyrSerGluAsnIleLysLeuLeuMetAspTrpValAsnAlaValCysAlaPheTyrAsnLysLysValGluAsnPheThrValSerPheSerAspGlyArgValLeuCysTyrLeuIleHisHisTyrHisProCysTyrValProPheAspAlaIleCysGlnArgThrThrGlnThrValGluCysThrGlnThrGlySerValValLeuAsnSerSerSerGluSerAspAspSerSerLeuAspMetSerLeuLysAlaPheAspHisGluAsnThrSerGluLeuTyrLysGluLeuLeuGluAsnGluLysLysAsnPheHisLeuValArgSerAlaValArgAspLeuGlyGlyIleProAlaMetIleAsnHisSerAspMetSerAsnThrIleProAspGluLysValValIleThrTyrLeuSerPheLeuCysAlaArgLeuLeuAspLeuArgLysGluIleArgAlaAlaArgLeuIleGlnThrThrTrpArgLysTyrLysLeuLysThrAspLeuLysArgHisGlnGluArgGluLysAlaAlaArgIleIleGlnLeuAlaValIleAsnPheLeuAlaLysGlnArgLeuArgLysArgValAsnAlaAlaLeuValIleGlnLysTyrTrpArgArgValLeuAlaGlnArgLysLeuLeuMetLeuLysLysGluLysLeuGluLysValGlnAsnLysAlaAlaSerLeuIleGlnAlaMetTrpArgArgTyrArgAlaLysLysTyrLeuCysLysValLysAlaAlaCysLysIleGlnAlaTrpTyrArgCysTrpArgAlaHisLysGluTyrLeuAlaIleLeuLysAlaValLysIleIleGlnGlyCysPheTyrThrLysLeuGluArgThrArgPheLeuAsnValArgAlaSerAlaIleIleIleGlnArgLysTrpArgAlaIleLeuProAlaLysIleAlaHisGluHisPheLeuMetIleLysArgHisArgAlaAlaCysLeuIleGlnAlaHisTyrArgGlyTyrLysGlyArgGlnValPheLeuArgGlnLysSerAlaAlaLeuIleIleGlnLysTyrIleArgAlaArgGluAlaGlyLysHisGluArgIleLysTyrIleGluPheLysLysSerThrValIleLeuGlnAlaLeuValArgGlyTrpLeuValArgLysArgPheLeuGluGlnArgAlaLysIleArgLeuLeuHisPheThrAlaAlaAlaTyrTyrHisLeuAsnAlaValArgIleGlnArgAlaTyrLysLeuTyrLeuAlaValLysAsnAlaAsnLysGlnValAsnSerValIleCysIleGlnArgTrpPheArgAlaArgLeuGlnGluLysArgPheIleGlnLysTyrHisSerIleLysLysIleGluHisGluGlyGlnGluCysLeuSerGlnArgAsnArgAlaAlaSerValIleGlnLysAlaValArgHisPheLeuLeuArgLysLysGlnGluLysPheThrSerGlyIleIleLysIleGlnAlaLeuTrpArgGlyTyrSerTrpArgLysLysAsnAspCysThrLysIleLysAlaIleArgLeuSerLeuGlnValValAsnArgGluIleArgGluGluAsnLysLeuTyrLysArgThrAlaLeuAlaLeuHisTyrLeuLeuThrTyrLysHisLeuSerAlaIleLeuGluAlaLeuLysHisLeuGluValValThrArgLeuSerProLeuCysCysGluAsnMetAlaGlnSerGlyAlaIleSerLysIlePheValLeuIleArgSerCysAsnArgSerIleProCysMetGluValIleArgTyrAlaValGlnValLeuLeuAsnValSerLysTyrGluLysThrThrSerAlaValTyrAspValGluAsnCysIleAspIleLeuLeuGluLeuLeuGlnIleTyrArgGluLysProGlyAsnLysValAlaAspLysGlyGlySerIlePheThrLysThrCysCysLeuLeuAlaIleLeuLeuLysThrThrAsnArgAlaSerAspValArgSerArgSerLysValValAspArgIleTyrSerLeuTyrLysLeuThrAlaHisLysHisLysMetAsnThrGluArgIleLeuTyrLysGlnLysLysAsnSerSerIleSerIleProPheIleProGluThrProValArgThrArgIleValSerArgLeuLysProAspTrpValLeuArgArgAspAsnMetGluGluIleThrAsnProLeuGlnAlaIleGlnMetValMetAspThrLeuGlyIleProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714237"
    }
  ],
  "type": "nucleotide"
}