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        "hgvsWellDefined": "NP_000305.3:p.Arg173Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662397"
    },
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      "@id": "http://reg.genome.network/allele/PA916019937",
      "coordinates": [
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          "allele": "T",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
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      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.5:c.1036C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.4:p.Arg346Cys",
        "hgvsWellDefined": "NP_001291646.4:p.Arg346Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664314"
    },
    {
      "coordinates": [
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          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.-75C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-75C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA300585",
      "coordinates": [
        {
          "allele": "T",
          "end": 1362,
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      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.517C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000305.3:p.Arg173Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "Ensembl": {
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  ],
  "type": "nucleotide"
}