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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323080.2:c.202A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310009.1:p.Lys68Ter",
        "hgvsWellDefined": "NP_001310009.1:p.Lys68_Leu238delinsThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827185690",
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "A",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323082.2:c.508A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310011.1:p.Lys170Ter",
        "hgvsWellDefined": "NP_001310011.1:p.Lys170_Leu340delinsThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 4696,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 4697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323083.2:c.415-4697A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310012.1:n.415-4697A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580214817",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "A",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NM_001323084.2:c.208A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310013.1:p.Lys70Ter",
        "hgvsWellDefined": "NP_001310013.1:p.Lys70_Leu240delinsThrSerArgHisProLeuHisGlnAspLeuHisTyrPheProPheArgProSerAspLeuIleValCysAlaTrpThrAlaMetGluHisIleSerArgAsnAsnGlyCysLeuValValLeuProGlyThrHisLysGlySerLeuLysProHisAspTyrProLysTrpGluGlyGlyValAsnLysMetPheHisGlyIleGlnAspTyrGluGluAsnLysAlaArgValHisLeuValMetGluLysGlyAspThrValPhePheHisProLeuLeuIleHisGlySerGlyGlnAsnLysThrGlnGlyPheArgLysAlaIleSerCysHisPheAlaSerAlaAspCysHisTyrIleAspValLysGlyThrSerGlnGluAsnIleGluLysGluValValGlyIleAlaHisLysPhePheGlyAlaGluAsnSerValAsnLeuLysAspIleTrpMetPheArgAlaArgLeuValLysGlyGluArgThrAsnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718301"
    }
  ],
  "type": "nucleotide"
}