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          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743671.2:n.414C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204022",
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.6:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Gln206Ter",
        "hgvsWellDefined": "NP_114130.3:p.Gln206_Ser560delinsThrGlyProLeuLeuGlyArgProAspSerLeuGluLeuGlnArgGlnArgGluAlaArgLysArgAlaLeuAlaArgLysGlnAlaGlnGluGlnLeuArgProGlnThrProGluProValGluGlyArgLysHisValAspValGlnThrGluLeuTyrLeuGluGluIleAlaAspArgIleIleGluValAspMetGluCysGlnThrAspAlaPheLeuAspArgProProThrProLeuPheIleProAlaLysThrGlyLysAspValAlaThrGlnIleLeuGluGlyGluLeuPheAspPheAspLeuGluValLysProValLeuGluValLeuValGlyLysThrIleGluGlnSerLeuLeuGluValMetGluGluGluGluLeuAlaAsnLeuArgAlaSerGlnArgGluTyrGluGluLeuArgAsnSerGluArgAlaGluValGlnArgLeuGluGluGlnGluArgArgHisArgGluGluLysGluArgArgLysLysGlnGlnTrpGluIleMetHisLysHisAsnGluThrSerGlnLysIleAlaAlaArgAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139753742",
      "coordinates": [
        {
          "allele": "T",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.8:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.4:p.Gln64Ter",
        "hgvsWellDefined": "NP_114130.4:p.Gln64_Ser418delinsThrGlyProLeuLeuGlyArgProAspSerLeuGluLeuGlnArgGlnArgGluAlaArgLysArgAlaLeuAlaArgLysGlnAlaGlnGluGlnLeuArgProGlnThrProGluProValGluGlyArgLysHisValAspValGlnThrGluLeuTyrLeuGluGluIleAlaAspArgIleIleGluValAspMetGluCysGlnThrAspAlaPheLeuAspArgProProThrProLeuPheIleProAlaLysThrGlyLysAspValAlaThrGlnIleLeuGluGlyGluLeuPheAspPheAspLeuGluValLysProValLeuGluValLeuValGlyLysThrIleGluGlnSerLeuLeuGluValMetGluGluGluGluLeuAlaAsnLeuArgAlaSerGlnArgGluTyrGluGluLeuArgAsnSerGluArgAlaGluValGlnArgLeuGluGluGlnGluArgArgHisArgGluGluLysGluArgArgLysLysGlnGlnTrpGluIleMetHisLysHisAsnGluThrSerGlnLysIleAlaAlaArgAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367069.7:c.190C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031924.8:c.190C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356036.1:p.Gln64Ter"
          },
          "RefSeq": {
            "hgvs": "NP_114130.4:p.Gln64Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}