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      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
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      "coordinates": [
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          "allele": "T",
          "end": 8154,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
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    {
      "coordinates": [
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          "allele": "T",
          "end": 8279,
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      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.8029C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Arg2677Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.8029C>T"
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}