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      "proteinEffect": {
        "hgvs": "XP_016856339.1:p.Arg164Trp",
        "hgvsWellDefined": "XP_016856339.1:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270166",
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
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      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.4:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:p.Arg164Trp",
        "hgvsWellDefined": "NP_071372.1:p.Arg164Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS670368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.490C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.490C>T"
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        },
        "protein": {
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            "hgvs": "ENSP00000327214.8:p.Arg164Trp"
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          "RefSeq": {
            "hgvs": "NP_071372.1:p.Arg164Trp"
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        }
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    },
    {
      "@id": "http://reg.genome.network/allele/PA2825835108",
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001135445.1:p.Arg159Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825836274",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.3:c.475C>T"
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      "proteinEffect": {
        "hgvs": "NP_001135446.1:p.Arg159Trp",
        "hgvsWellDefined": "NP_001135446.1:p.Arg159Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS677480"
    }
  ],
  "type": "nucleotide"
}