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        "hgvs": "NP_001361424.1:p.Asn141Lys",
        "hgvsWellDefined": "NP_001361424.1:p.Asn141Lys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS693301"
    },
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      "@id": "http://reg.genome.network/allele/PA2828524041",
      "coordinates": [
        {
          "allele": "G",
          "end": 1000,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374496.1:c.423C>G"
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      "proteinEffect": {
        "hgvs": "NP_001361425.1:p.Asn141Lys",
        "hgvsWellDefined": "NP_001361425.1:p.Asn141Lys"
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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.Asn288Lys"
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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS711482"
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}