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      ],
      "proteinEffect": {
        "hgvs": "NP_001037850.1:p.Arg18Ter",
        "hgvsWellDefined": "NP_001037850.1:p.Arg18_Ser408delinsAlaLeuProProValProSerGlnAspAspIleProLeuSerArgProLysLysLysLysProArgThrLysAsnThrProAlaSerAlaSerLeuGluGlyLeuAlaGlnThrAlaGlyArgArgProSerGluGlyAsnGluProSerThrLysGluLeuLysGluHisProGluAlaProValGlnArgArgGlnLysLysThrArgLeuProLeuGluLeuGluThrSerSerThrGlnLysLysSerSerSerSerSerLeuLeuArgAsnGluAsnGlyIleAspAlaGluProAlaGluGluAlaValIleGlnLysProArgArgLysThrLysLysThrGlnProAlaGluLeuGlnTyrAlaAsnGluLeuGlyValGluAspGluAspIleIleThrAspGluGlnThrThrValGluGlnGlnSerValPheThrAlaProThrGlyIleSerGlnProValGlyLysValPheValGluLysSerArgArgPheGlnAlaAlaAspArgSerGluLeuIleLysThrThrGluAsnIleAspValSerMetAspValLysProSerTrpThrThrArgAspValAlaLeuThrValHisArgAlaPheArgMetIleGlyLeuPheSerHisGlyPheLeuAlaGlyCysAlaValTrpAsnIleValValIleTyrValLeuAlaGlyAspGlnLeuSerAsnLeuSerAsnLeuLeuGlnGlnTyrLysThrLeuAlaTyrProPheGlnSerLeuLeuTyrLeuLeuLeuAlaLeuSerThrIleSerAlaPheAspArgIleAspPheAlaLysIleSerValAlaIleArgAsnPheLeuAlaLeuAspProThrAlaLeuAlaSerPheLeuTyrPheThrAlaLeuIleLeuSerLeuSerGlnGlnMetThrSerAspArgIleHisLeuTyrThrProSerSerValAsnGlySerLeuTrpGluAlaGlyIleGluGluGlnIleLeuGlnProTrpIleValValAsnLeuValValAlaLeuLeuValGlyLeuSerTrpLeuPheLeuSerTyrArgProGlyMetAspLeuSerGluGluLeuMetPheSerSerGluValGluGluTyrProAspLysGluLysGluIleLysAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663204",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409883.7:c.52C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001044385.3:c.52C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386264.2:p.Arg18Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001037850.1:p.Arg18Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA260001",
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "referenceAllele": "C",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "NM_152388.4:c.28C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689601.2:p.Arg10Ter",
        "hgvsWellDefined": "NP_689601.2:p.Arg10_Ser400delinsAlaLeuProProValProSerGlnAspAspIleProLeuSerArgProLysLysLysLysProArgThrLysAsnThrProAlaSerAlaSerLeuGluGlyLeuAlaGlnThrAlaGlyArgArgProSerGluGlyAsnGluProSerThrLysGluLeuLysGluHisProGluAlaProValGlnArgArgGlnLysLysThrArgLeuProLeuGluLeuGluThrSerSerThrGlnLysLysSerSerSerSerSerLeuLeuArgAsnGluAsnGlyIleAspAlaGluProAlaGluGluAlaValIleGlnLysProArgArgLysThrLysLysThrGlnProAlaGluLeuGlnTyrAlaAsnGluLeuGlyValGluAspGluAspIleIleThrAspGluGlnThrThrValGluGlnGlnSerValPheThrAlaProThrGlyIleSerGlnProValGlyLysValPheValGluLysSerArgArgPheGlnAlaAlaAspArgSerGluLeuIleLysThrThrGluAsnIleAspValSerMetAspValLysProSerTrpThrThrArgAspValAlaLeuThrValHisArgAlaPheArgMetIleGlyLeuPheSerHisGlyPheLeuAlaGlyCysAlaValTrpAsnIleValValIleTyrValLeuAlaGlyAspGlnLeuSerAsnLeuSerAsnLeuLeuGlnGlnTyrLysThrLeuAlaTyrProPheGlnSerLeuLeuTyrLeuLeuLeuAlaLeuSerThrIleSerAlaPheAspArgIleAspPheAlaLysIleSerValAlaIleArgAsnPheLeuAlaLeuAspProThrAlaLeuAlaSerPheLeuTyrPheThrAlaLeuIleLeuSerLeuSerGlnGlnMetThrSerAspArgIleHisLeuTyrThrProSerSerValAsnGlySerLeuTrpGluAlaGlyIleGluGluGlnIleLeuGlnProTrpIleValValAsnLeuValValAlaLeuLeuValGlyLeuSerTrpLeuPheLeuSerTyrArgProGlyMetAspLeuSerGluGluLeuMetPheSerSerGluValGluGluTyrProAspLysGluLysGluIleLysAlaSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700165"
    }
  ],
  "type": "nucleotide"
}