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      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "XM_011538635.2:c.654C>T"
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      "proteinEffect": {
        "hgvs": "XP_011536937.1:p.Asp218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "XM_017019774.1:c.501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875263.1:p.Asp167="
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      "referenceSequence": "http://reg.genome.network/refseq/RS571368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829980856",
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
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      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "NM_021625.5:c.501C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_067638.3:p.Asp167="
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      "referenceSequence": "http://reg.genome.network/refseq/RS698429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261740.7:c.501C>T"
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    }
  ],
  "type": "nucleotide"
}