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      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.569C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Thr190Arg",
        "hgvsWellDefined": "XP_011541719.1:p.Thr190Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
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      "coordinates": [
        {
          "allele": "G",
          "end": 995,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
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      "hgvs": [
        "NM_001182.5:c.974C>G"
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        "hgvsWellDefined": "NP_001173.2:p.Thr325Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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      "geneNCBI_id": 501,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
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    {
      "@id": "http://reg.genome.network/allele/PA2580172051",
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      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
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      ],
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        "hgvs": "NP_001189333.2:p.Thr325Arg",
        "hgvsWellDefined": "NP_001189333.2:p.Thr325Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
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  ],
  "type": "nucleotide"
}