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      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XR_002956640.1:n.2406C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS602779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579904334",
      "coordinates": [
        {
          "allele": "A",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
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      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.1305C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_005948.3:p.Phe435Leu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
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        "hgvs": "NP_001317287.1:p.Phe476Leu",
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      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}