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      "proteinEffect": {
        "hgvs": "XP_024305586.1:p.Arg107Ter",
        "hgvsWellDefined": "XP_024305586.1:p.Arg107_Arg674delinsMetArgLysTyrGlnMetThrGlyValGluGluValThrGlnIleProGlnGluGluHisAlaAlaAsnGlyProGluLeuLeuArgLysLysArgThrThrSerAlaGluLysAsnThrCysGlnLeuTyrIleGlnThrAspHisLeuPhePheLysTyrTyrGlyThrArgGluAlaValIleAlaGlnIleSerSerHisValLysAlaIleAspThrIleTyrGlnThrThrAspPheSerGlyIleArgAsnIleSerPheMetValLysArgIleArgIleAsnThrThrAlaAspGluLysAspProThrAsnProPheArgPheProAsnIleGlyValGluLysPheLeuGluLeuAsnSerGluGlnAsnHisAspAspTyrCysLeuAlaTyrValPheThrAspArgAspPheAspAspGlyValLeuGlyLeuAlaTrpValGlyAlaProSerGlySerSerGlyGlyIleCysGluLysSerLysLeuTyrSerAspGlyLysLysLysSerLeuAsnThrGlyIleIleThrValGlnAsnTyrGlySerHisValProProLysValSerHisIleThrPheAlaHisGluValGlyHisAsnPheGlySerProHisAspSerGlyThrGluCysThrProGlyGluSerLysAsnLeuGlyGlnLysGluAsnGlyAsnTyrIleMetTyrAlaArgAlaThrSerGlyAspLysLeuAsnAsnAsnLysPheSerLeuCysSerIleArgAsnIleSerGlnValLeuGluLysLysArgAsnAsnCysPheValGluSerGlyGlnProIleCysGlyAsnGlyMetValGluGlnGlyGluGluCysAspCysGlyTyrSerAspGlnCysLysAspGluCysCysPheAspAlaAsnGlnProGluGlyArgLysCysLysLeuLysProGlyLysGlnCysSerProSerGlnGlyProCysCysThrAlaGlnCysAlaPheLysSerLysSerGluLysCysArgAspAspSerAspCysAlaArgGluGlyIleCysAsnGlyPheThrAlaLeuCysProAlaSerAspProLysProAsnPheThrAspCysAsnArgHisThrGlnValCysIleAsnGlyGlnCysAlaGlySerIleCysGluLysTyrGlyLeuGluGluCysThrCysAlaSerSerAspGlyLysAspAspLysGluLeuCysHisValCysCysMetLysLysMetAspProSerThrCysAlaSerThrGlySerValGlnTrpSerArgHisPheSerGlyArgThrIleThrLeuGlnProGlySerProCysAsnAspPheArgGlyTyrCysAspValPheMetArgCysArgLeuValAspAlaAspGlyProLeuAlaArgLeuLysLysAlaIlePheSerProGluLeuTyrGluAsnIleAlaGluTrpIleValAlaHisTrpTrpAlaValLeuLeuMetGlyIleAlaLeuIleMetLeuMetAlaGlyPheIleLysIleCysSerValHisThrProSerSerAsnProLysLeuProProProLysProLeuProGlyThrLeuLysArgArgArgProProGlnProIleGlnGlnProGlnArgGlnArgProArgGluSerTyrGlnMetGlyHisMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081932373",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "A",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "NM_001110.4:c.541A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001101.1:p.Arg181Ter",
        "hgvsWellDefined": "NP_001101.1:p.Arg181_Arg748delinsMetArgLysTyrGlnMetThrGlyValGluGluValThrGlnIleProGlnGluGluHisAlaAlaAsnGlyProGluLeuLeuArgLysLysArgThrThrSerAlaGluLysAsnThrCysGlnLeuTyrIleGlnThrAspHisLeuPhePheLysTyrTyrGlyThrArgGluAlaValIleAlaGlnIleSerSerHisValLysAlaIleAspThrIleTyrGlnThrThrAspPheSerGlyIleArgAsnIleSerPheMetValLysArgIleArgIleAsnThrThrAlaAspGluLysAspProThrAsnProPheArgPheProAsnIleGlyValGluLysPheLeuGluLeuAsnSerGluGlnAsnHisAspAspTyrCysLeuAlaTyrValPheThrAspArgAspPheAspAspGlyValLeuGlyLeuAlaTrpValGlyAlaProSerGlySerSerGlyGlyIleCysGluLysSerLysLeuTyrSerAspGlyLysLysLysSerLeuAsnThrGlyIleIleThrValGlnAsnTyrGlySerHisValProProLysValSerHisIleThrPheAlaHisGluValGlyHisAsnPheGlySerProHisAspSerGlyThrGluCysThrProGlyGluSerLysAsnLeuGlyGlnLysGluAsnGlyAsnTyrIleMetTyrAlaArgAlaThrSerGlyAspLysLeuAsnAsnAsnLysPheSerLeuCysSerIleArgAsnIleSerGlnValLeuGluLysLysArgAsnAsnCysPheValGluSerGlyGlnProIleCysGlyAsnGlyMetValGluGlnGlyGluGluCysAspCysGlyTyrSerAspGlnCysLysAspGluCysCysPheAspAlaAsnGlnProGluGlyArgLysCysLysLeuLysProGlyLysGlnCysSerProSerGlnGlyProCysCysThrAlaGlnCysAlaPheLysSerLysSerGluLysCysArgAspAspSerAspCysAlaArgGluGlyIleCysAsnGlyPheThrAlaLeuCysProAlaSerAspProLysProAsnPheThrAspCysAsnArgHisThrGlnValCysIleAsnGlyGlnCysAlaGlySerIleCysGluLysTyrGlyLeuGluGluCysThrCysAlaSerSerAspGlyLysAspAspLysGluLeuCysHisValCysCysMetLysLysMetAspProSerThrCysAlaSerThrGlySerValGlnTrpSerArgHisPheSerGlyArgThrIleThrLeuGlnProGlySerProCysAsnAspPheArgGlyTyrCysAspValPheMetArgCysArgLeuValAspAlaAspGlyProLeuAlaArgLeuLysLysAlaIlePheSerProGluLeuTyrGluAsnIleAlaGluTrpIleValAlaHisTrpTrpAlaValLeuLeuMetGlyIleAlaLeuIleMetLeuMetAlaGlyPheIleLysIleCysSerValHisThrProSerSerAsnProLysLeuProProProLysProLeuProGlyThrLeuLysArgArgArgProProGlnProIleGlnGlnProGlnArgGlnArgProArgGluSerTyrGlnMetGlyHisMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260408.8:c.541A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001110.4:c.541A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260408.3:p.Arg181Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001101.1:p.Arg181Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "A",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000188",
      "geneNCBI_id": 102,
      "geneSymbol": "ADAM10",
      "hgvs": [
        "NM_001320570.2:c.541A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307499.1:p.Arg181Ter",
        "hgvsWellDefined": "NP_001307499.1:p.Arg181_Arg717delinsMetArgLysTyrGlnMetThrGlyValGluGluValThrGlnIleProGlnGluGluHisAlaAlaAsnGlyProGluLeuLeuArgLysLysArgThrThrSerAlaGluLysAsnThrCysGlnLeuTyrIleGlnThrAspHisLeuPhePheLysTyrTyrGlyThrArgGluAlaValIleAlaGlnIleAsnThrThrAlaAspGluLysAspProThrAsnProPheArgPheProAsnIleGlyValGluLysPheLeuGluLeuAsnSerGluGlnAsnHisAspAspTyrCysLeuAlaTyrValPheThrAspArgAspPheAspAspGlyValLeuGlyLeuAlaTrpValGlyAlaProSerGlySerSerGlyGlyIleCysGluLysSerLysLeuTyrSerAspGlyLysLysLysSerLeuAsnThrGlyIleIleThrValGlnAsnTyrGlySerHisValProProLysValSerHisIleThrPheAlaHisGluValGlyHisAsnPheGlySerProHisAspSerGlyThrGluCysThrProGlyGluSerLysAsnLeuGlyGlnLysGluAsnGlyAsnTyrIleMetTyrAlaArgAlaThrSerGlyAspLysLeuAsnAsnAsnLysPheSerLeuCysSerIleArgAsnIleSerGlnValLeuGluLysLysArgAsnAsnCysPheValGluSerGlyGlnProIleCysGlyAsnGlyMetValGluGlnGlyGluGluCysAspCysGlyTyrSerAspGlnCysLysAspGluCysCysPheAspAlaAsnGlnProGluGlyArgLysCysLysLeuLysProGlyLysGlnCysSerProSerGlnGlyProCysCysThrAlaGlnCysAlaPheLysSerLysSerGluLysCysArgAspAspSerAspCysAlaArgGluGlyIleCysAsnGlyPheThrAlaLeuCysProAlaSerAspProLysProAsnPheThrAspCysAsnArgHisThrGlnValCysIleAsnGlyGlnCysAlaGlySerIleCysGluLysTyrGlyLeuGluGluCysThrCysAlaSerSerAspGlyLysAspAspLysGluLeuCysHisValCysCysMetLysLysMetAspProSerThrCysAlaSerThrGlySerValGlnTrpSerArgHisPheSerGlyArgThrIleThrLeuGlnProGlySerProCysAsnAspPheArgGlyTyrCysAspValPheMetArgCysArgLeuValAspAlaAspGlyProLeuAlaArgLeuLysLysAlaIlePheSerProGluLeuTyrGluAsnIleAlaGluTrpIleValAlaHisTrpTrpAlaValLeuLeuMetGlyIleAlaLeuIleMetLeuMetAlaGlyPheIleLysIleCysSerValHisThrProSerSerAsnProLysLeuProProProLysProLeuProGlyThrLeuLysArgArgArgProProGlnProIleGlnGlnProGlnArgGlnArgProArgGluSerTyrGlnMetGlyHisMetArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684955"
    }
  ],
  "type": "nucleotide"
}