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        {
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          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1196C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071407136",
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
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      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.842C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Pro281Arg",
        "hgvsWellDefined": "NP_003051.1:p.Pro281Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000245407.8:c.842C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.842C>G"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Pro281Arg"
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          "RefSeq": {
            "hgvs": "NP_003051.1:p.Pro281Arg"
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      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.914C>G"
      ],
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        "hgvs": "NP_001295051.1:p.Pro305Arg",
        "hgvsWellDefined": "NP_001295051.1:p.Pro305Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}