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      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158490",
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
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      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.470T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Val157Ala",
        "hgvsWellDefined": "NP_001177317.2:p.Val157Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 786,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.617-2822T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:n.617-2822T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828551176",
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "T",
          "start": 610
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      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.470T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Val157Ala",
        "hgvsWellDefined": "NP_001361727.1:p.Val157Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103185",
      "coordinates": [
        {
          "allele": "C",
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          "referenceAllele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.647T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Val216Ala",
        "hgvsWellDefined": "NP_005467.1:p.Val216Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.647T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.647T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Val216Ala"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Val216Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}