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      "proteinEffect": {
        "hgvs": "NP_001310011.1:p.Trp195Ter",
        "hgvsWellDefined": "NP_001310011.1:p.Trp195_Leu340delinsThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 4619,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 4620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323083.2:c.415-4620G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310012.1:n.415-4620G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741860779",
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323084.2:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310013.1:p.Trp95Ter",
        "hgvsWellDefined": "NP_001310013.1:p.Trp95_Leu240delinsThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718301"
    }
  ],
  "type": "nucleotide"
}