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      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_024447074.1:c.7256G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302842.1:p.Trp2419Ser",
        "hgvsWellDefined": "XP_024302842.1:p.Trp2419Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075061991",
      "coordinates": [
        {
          "allele": "C",
          "end": 8574,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_017890.5:c.8471G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Trp2824Ser",
        "hgvsWellDefined": "NP_060360.3:p.Trp2824Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
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      "hgvs": [
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        "hgvsWellDefined": "NP_689777.3:p.Trp2799Ser"
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      "MANE": {
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        "maneStatus": "MANE Select",
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    }
  ],
  "type": "nucleotide"
}