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      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001282902.3:c.742C>T"
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        "hgvs": "NP_001269831.1:p.Arg248Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681936"
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
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      "hgvs": [
        "NM_001282903.3:c.748C>T"
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      "proteinEffect": {
        "hgvs": "NP_001269832.1:p.Arg250Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681937"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.2:c.730C>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS687024"
    },
    {
      "coordinates": [
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      "geneNCBI_id": 7227,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Arg257Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS697185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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  ],
  "type": "nucleotide"
}