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          "end": 2327,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN019706",
      "geneNCBI_id": 54507,
      "geneSymbol": "ADAMTSL4",
      "hgvs": [
        "NM_001288608.2:c.2077C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275537.1:p.Arg693="
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      "referenceSequence": "http://reg.genome.network/refseq/RS716454"
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    {
      "coordinates": [
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          "allele": "C",
          "end": 2636,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN019706",
      "geneNCBI_id": 54507,
      "geneSymbol": "ADAMTSL4",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS721799"
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    {
      "@id": "http://reg.genome.network/allele/PA3064059947",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN019706",
      "geneNCBI_id": 54507,
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS728384",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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  ],
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}