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      "geneSymbol": "HJV",
      "hgvs": [
        "NM_001379352.1:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366281.1:p.Arg326Ter",
        "hgvsWellDefined": "NP_001366281.1:p.Arg326_Gln426delinsLeuSerArgSerGluArgAsnArgArgGlyAlaIleThrIleAspThrAlaArgArgLeuCysLysGluGlyLeuProValGluAspAlaTyrPheHisSerCysValPheAspValLeuIleSerGlyAspProAsnPheThrValAlaAlaGlnAlaAlaLeuGluAspAlaArgAlaPheLeuProAspLeuGluLysLeuHisLeuPheProSerAspAlaGlyValProLeuSerSerAlaThrLeuLeuAlaProLeuLeuSerGlyLeuPheValLeuTrpLeuCysIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252251",
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NM_213653.4:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_998818.1:p.Arg326Ter",
        "hgvsWellDefined": "NP_998818.1:p.Arg326_Gln426delinsLeuSerArgSerGluArgAsnArgArgGlyAlaIleThrIleAspThrAlaArgArgLeuCysLysGluGlyLeuProValGluAspAlaTyrPheHisSerCysValPheAspValLeuIleSerGlyAspProAsnPheThrValAlaAlaGlnAlaAlaLeuGluAspAlaArgAlaPheLeuProAspLeuGluLysLeuHisLeuPheProSerAspAlaGlyValProLeuSerSerAlaThrLeuLeuAlaProLeuLeuSerGlyLeuPheValLeuTrpLeuCysIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730158",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336751.11:c.976C>T"
          },
          "RefSeq": {
            "hgvs": "NM_213653.4:c.976C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337014.5:p.Arg326Ter"
          },
          "RefSeq": {
            "hgvs": "NP_998818.1:p.Arg326Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}