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      "proteinEffect": {
        "hgvs": "XP_005252395.2:p.Gln341Ter",
        "hgvsWellDefined": "XP_005252395.2:p.Gln341_Ile520delinsGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825290365",
      "coordinates": [
        {
          "allele": "T",
          "end": 1495,
          "referenceAllele": "C",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.2:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Gln398Ter",
        "hgvsWellDefined": "NP_001008213.1:p.Gln398_Ile577delinsGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.1192C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.1192C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Gln398Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Gln398Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}