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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS094401"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS534968"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534969"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534970"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS548617"
    },
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          "referenceAllele": "G",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577270"
    },
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS585218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825388476",
      "coordinates": [
        {
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          "end": 1266,
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          "start": 1265
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      "gene": "http://reg.genome.network/gene/GN017997",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001034974.1:p.Glu311_Gly495delinsArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829618",
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.928G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Glu310Ter",
        "hgvsWellDefined": "NP_077277.1:p.Glu311_Gly495delinsArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.928G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.928G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Glu310Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Glu310Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}