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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12229,
          "referenceAllele": "G",
          "start": 12228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008921",
      "geneNCBI_id": 23469,
      "geneSymbol": "PHF3",
      "hgvs": [
        "NM_001370350.2:c.*7518G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357279.1:n.*7518G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13664,
          "referenceAllele": "G",
          "start": 13663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008921",
      "geneNCBI_id": 23469,
      "geneSymbol": "PHF3",
      "hgvs": [
        "NM_015153.4:c.*7518G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055968.1:n.*7518G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018589",
      "coordinates": [
        {
          "allele": "A",
          "end": 9407,
          "referenceAllele": "C",
          "start": 9406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021555",
      "geneNCBI_id": 346007,
      "geneSymbol": "EYS",
      "hgvs": [
        "NM_001292009.2:c.8868C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278938.1:p.Tyr2956Ter",
        "hgvsWellDefined": "NP_001278938.1:p.Tyr2956_Thr3165delinsSerCysLeuCysThrLeuGlyTrpValGlyArgTyrCysGluAsnLysThrSerPheSerThrAlaLysPheMetGlyAsnSerTyrIleLysTyrIleAspProAsnTyrArgMetArgAsnLeuGlnPheThrThrIleSerLeuAsnPheSerThrThrLysThrGluGlyLeuIleValTrpMetGlyIleAlaGlnAsnGluGluAsnAspPheLeuAlaIleGlyLeuHisAsnGlnThrLeuLysIleAlaValAsnLeuGlyGluArgIleSerValProMetSerTyrAsnAsnGlyThrPheCysCysAsnLysTrpHisHisValValValIleGlnAsnGlnThrLeuIleLysAlaTyrIleAsnAsnSerLeuIleLeuSerGluAspIleAspProHisLysAsnPheValAlaLeuAsnTyrAspGlyIleCysTyrLeuGlyGlyPheGluTyrGlyArgLysValAsnIleValThrGlnGluIlePheLysThrAsnPheValGlyLysIleLysAspValValPhePheGlnGluProLysAsnIleGluLeuIleLysLeuGluGlyTyrAsnValTyrAspGlyAspGluGlnAsnGluValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716738"
    }
  ],
  "type": "nucleotide"
}