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        "hgvs": "XP_016876028.1:p.Pro4536Ser",
        "hgvsWellDefined": "XP_016876028.1:p.Pro4536Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.13642C>T"
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      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Pro4548Ser",
        "hgvsWellDefined": "XP_024305105.1:p.Pro4548Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_055178.3:p.Pro4539Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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        "protein": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
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}