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  "communityStandardTitle": [
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        "hgvsWellDefined": "XP_005252393.2:p.Glu316_Ile571delinsAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252337.3:c.946G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252394.2:p.Glu316Ter",
        "hgvsWellDefined": "XP_005252394.2:p.Glu316_Ile571delinsAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "XM_005252338.2:c.793G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252395.2:p.Glu265Ter",
        "hgvsWellDefined": "XP_005252395.2:p.Glu265_Ile520delinsAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017142",
      "geneNCBI_id": 10133,
      "geneSymbol": "OPTN",
      "hgvs": [
        "NM_001008212.2:c.964G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008213.1:p.Glu322Ter",
        "hgvsWellDefined": "NP_001008213.1:p.Glu322_Ile577delinsAlaGluLeuMetLysLysArgLeuGlnGluLysCysGlnAlaLeuGluArgLysAsnSerAlaIleProSerGluLeuAsnGluLysGlnGluLeuValTyrThrAsnLysLysLeuGluLeuGlnValGluSerMetLeuSerGluIleLysMetGluGlnAlaLysThrGluAspGluLysSerLysLeuThrValLeuGlnMetThrHisAsnLysLeuLeuGlnGluHisAsnAsnAlaLeuLysThrIleGluGluLeuThrArgLysGluSerGluLysValAspArgAlaValLeuLysGluLeuSerGluLysLeuGluLeuAlaGluLysAlaLeuAlaSerLysGlnLeuGlnMetAspGluMetLysGlnThrIleAlaLysGlnGluGluAspLeuGluThrMetThrIleLeuArgAlaGlnMetGluValTyrCysSerAspPheHisAlaGluArgAlaAlaArgGluLysIleHisGluGluLysGluGlnLeuAlaLeuGlnLeuAlaValLeuLeuLysGluAsnAspAlaPheGluAspGlyGlyArgGlnSerLeuMetGluMetGlnSerArgHisGlyAlaArgThrSerAspSerAspGlnGlnAlaTyrLeuValGlnArgGlyAlaGluAspArgAspTrpArgGlnGlnArgAsnIleProIleHisSerCysProLysCysGlyGluValLeuProAspIleAspThrLeuGlnIleHisValMetAspCysIleIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378747.8:c.964G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001008212.2:c.964G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368021.3:p.Glu322Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001008213.1:p.Glu322Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}