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      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
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        "hgvsWellDefined": "XP_016876028.1:p.Ala146Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010519",
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      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
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      "@id": "http://reg.genome.network/allele/PA2829763534",
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN010519",
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      "hgvs": [
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      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
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}