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        "hgvs": "XP_016856339.1:p.Glu367Lys",
        "hgvsWellDefined": "XP_016856339.1:p.Glu367Lys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS557130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573281514",
      "coordinates": [
        {
          "allele": "A",
          "end": 1289,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.4:c.1099G>A"
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      "proteinEffect": {
        "hgvs": "NP_071372.1:p.Glu367Lys",
        "hgvsWellDefined": "NP_071372.1:p.Glu367Lys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS670368",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_022089.4:c.1099G>A"
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        "protein": {
          "Ensembl": {
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            "hgvs": "NP_071372.1:p.Glu367Lys"
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        }
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    {
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
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        "hgvsWellDefined": "NP_001135445.1:p.Glu362Lys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825836511",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
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        "hgvsWellDefined": "NP_001135446.1:p.Glu362Lys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677480"
    }
  ],
  "type": "nucleotide"
}