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        "XM_017006017.1:c.2831G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861506.1:p.Arg944Gln",
        "hgvsWellDefined": "XP_016861506.1:p.Arg944Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6535,
          "referenceAllele": "G",
          "start": 6534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XR_940397.2:n.6535G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828167442",
      "coordinates": [
        {
          "allele": "A",
          "end": 6315,
          "referenceAllele": "G",
          "start": 6314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_001365116.2:c.6257G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352045.1:p.Arg2086Gln",
        "hgvsWellDefined": "NP_001352045.1:p.Arg2086Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915977332",
      "coordinates": [
        {
          "allele": "A",
          "end": 6555,
          "referenceAllele": "G",
          "start": 6554
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      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_015175.3:c.6359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055990.1:p.Arg2120Gln",
        "hgvsWellDefined": "NP_055990.1:p.Arg2120Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450053.8:c.6359G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015175.3:c.6359G>A"
          }
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415034.2:p.Arg2120Gln"
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          "RefSeq": {
            "hgvs": "NP_055990.1:p.Arg2120Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}