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        "hgvsWellDefined": "NP_001361424.1:p.Asn176Lys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS693301"
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    {
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        {
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374496.1:c.528C>A"
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      "proteinEffect": {
        "hgvs": "NP_001361425.1:p.Asn176Lys",
        "hgvsWellDefined": "NP_001361425.1:p.Asn176Lys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS693302"
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
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      "hgvs": [
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        "hgvsWellDefined": "NP_004928.2:p.Asn323Lys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696276",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS711482"
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}