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        "hgvs": "NP_001341738.1:p.Ala391Glu",
        "hgvsWellDefined": "NP_001341738.1:p.Ala391Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS690324"
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      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
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      "hgvs": [
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    {
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      "gene": "http://reg.genome.network/gene/GN003690",
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      "MANE": {
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  "type": "nucleotide"
}