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      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XR_940397.2:n.4302A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828167187",
      "coordinates": [
        {
          "allele": "G",
          "end": 4082,
          "referenceAllele": "A",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_001365116.2:c.4024A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352045.1:p.Ser1342Gly",
        "hgvsWellDefined": "NP_001352045.1:p.Ser1342Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139736844",
      "coordinates": [
        {
          "allele": "G",
          "end": 4322,
          "referenceAllele": "A",
          "start": 4321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_015175.3:c.4126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055990.1:p.Ser1376Gly",
        "hgvsWellDefined": "NP_055990.1:p.Ser1376Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450053.8:c.4126A>G"
          },
          "RefSeq": {
            "hgvs": "NM_015175.3:c.4126A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415034.2:p.Ser1376Gly"
          },
          "RefSeq": {
            "hgvs": "NP_055990.1:p.Ser1376Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}