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      "referenceSequence": "http://reg.genome.network/refseq/RS569421"
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      "gene": "http://reg.genome.network/gene/GN005173",
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        "NM_005343.4:c.388G>C"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS684413"
    },
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      "gene": "http://reg.genome.network/gene/GN005173",
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      "hgvs": [
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        "hgvsWellDefined": "NP_001123914.1:p.Ala130Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS712333"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN005173",
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      "hgvs": [
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      "MANE": {
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}