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        "hgvs": "NP_001361425.1:p.Pro214="
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      "referenceSequence": "http://reg.genome.network/refseq/RS693302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829549961",
      "coordinates": [
        {
          "allele": "A",
          "end": 1384,
          "referenceAllele": "G",
          "start": 1383
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      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.3:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Pro361="
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      "referenceSequence": "http://reg.genome.network/refseq/RS696276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.1083G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.1083G>A"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Pro361="
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          "RefSeq": {
            "hgvs": "NP_004928.2:p.Pro361="
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825348196",
      "coordinates": [
        {
          "allele": "A",
          "end": 1562,
          "referenceAllele": "G",
          "start": 1561
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      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.3:c.1083G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Pro361="
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      "referenceSequence": "http://reg.genome.network/refseq/RS711482"
    }
  ],
  "type": "nucleotide"
}