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  "communityStandardTitle": [
    "NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)"
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          "RCV000549203",
          "RCV000825030",
          "RCV000725468",
          "RCV002254519"
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          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "NM_145038.5:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659475.2:p.Gln118Ter",
        "hgvsWellDefined": "NP_659475.2:p.Gln118_Lys740delinsArgIleGluLysLeuGluAsnGluValLysThrSerGlnAspLysPheAspGluIleThrSerLysTrpGluGluGlyLysGlnLysArgIleProGlnGluLeuTrpGluMetLeuAsnThrGlnGlnLeuHisCysAlaGlyLeuLeuGluAspLysAsnLysLeuIleSerGluLeuGlnGlnGluLeuLysThrLysAspAspGlnTyrValLysAspLeuLysLysGlnSerAspAspIleCysLeuLeuLeuGluArgMetGluGluGlnValLysAsnValMetLysThrPheArgGluGluLeuTyrAsnIleGluLysAlaPheGluValGluArgGlnGluLeuLeuAlaSerAsnLysLysLysTrpGluGlnAlaLeuGlnAlaHisAsnAlaLysGluLeuGluTyrLeuAsnAsnArgMetLysLysValGluAspTyrGluLysGlnLeuAsnArgGlnArgIleTrpAspCysGluGluTyrAsnMetIleLysIleLysLeuGluGlnAspValGlnIleLeuGluGlnGlnLeuGlnGlnArgLysAlaIleTyrGlnLeuAsnGlnGluLysLeuGluTyrAsnLeuGlnValLeuLysLysArgAspGluGluSerThrValIleLysSerGlnGlnLysArgLysIleAsnArgLeuHisAspIleLeuAsnAsnLeuArgSerLysTyrAlaLysGlnIleLysGlnPheGlnGluGluAsnGlnSerLeuThrSerAspTyrLysArgLeuValMetGlnPheLysGluLeuGlnLysAlaMetArgHisPheAlaLeuIleAspAspGluLysPheTrpGluIleTrpLeuMetAsnGluGluGluAlaLysAspLeuIleAlaArgAlaPheAspValAspArgIleIleHisThrHisHisLeuGlyLeuProTrpAlaAlaProAspPheTrpPheLeuAsnAsnValGlyProIleSerGlnGlnProGlnLysSerAlaThrGlnIleValGluGluMetLeuMetArgSerGluGluGluGluAlaGluGluAlaAlaAlaGluProGluSerTyrLeuAspLeuProLysGlnIleSerGluLysThrThrLysArgIleLeuMetLeuLeuCysAspGluSerGlyPheLeuIleGluSerLysLeuLeuSerLeuLeuLeuProLeuGluGlnAsnGluCysTyrLeuLeuArgLeuAspAlaIlePheSerAlaLeuGlyIleGluSerGluAspAspLeuTyrLysLeuValAsnPhePheLeuLysTyrArgAlaHisArgLeuSerSerSerLeuGlnIleLysProCysSerGlnAlaSerMetGluLysAlaSerMetGluGluThrSerThrArgSerGluLeuGluLeuAlaGluGlnThrGluMetGluGlyGluLysGluGluSerLeuValGluGlyGluLysGluGluGluGluGluThrProProSerProTrpValIleHisProAsnAspValLeuLysIleLeuGluAlaPheValMetGlyLeuLysLysProArgAspSerArgAlaProLeuArgValGlnLysAsnValArgAspAsnSerLysAspSerGluTyrTrpGlnAlaLeuThrThrValIleProSerSerLysGlnAsnLeuTrpAspAlaLeuTyrThrAlaLeuGluLysTyrHisLeuValLeuThrGlnArgAlaLysLeuLeuLeuGluAsnSerSerLeuGluGlnGlnAsnThrGluLeuGlnAlaLeuLeuGlnGlnTyrLeuAsnSerLysIleAsnSerGluLeuGlnValProProThrGlnValLeuArgValProThrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288710.7:c.352C>T"
          },
          "RefSeq": {
            "hgvs": "NM_145038.5:c.352C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288710.2:p.Gln118Ter"
          },
          "RefSeq": {
            "hgvs": "NP_659475.2:p.Gln118Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}