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          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "XR_002956640.1:n.2854-174C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602779"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829613640",
      "coordinates": [
        {
          "allele": "T",
          "end": 1851,
          "referenceAllele": "C",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NM_005957.5:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005948.3:p.Ala587="
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      "referenceSequence": "http://reg.genome.network/refseq/RS696571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365775.3:p.Ala587="
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          "RefSeq": {
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827306514",
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "C",
          "start": 1906
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      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001317287.1:p.Ala628="
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      "referenceSequence": "http://reg.genome.network/refseq/RS718659"
    }
  ],
  "type": "nucleotide"
}