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        "hgvsWellDefined": "NP_001265645.1:p.Gln404_Gln621delinsAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369244.7:c.1210C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278716.2:c.1210C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358247.1:p.Gln404Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001265645.1:p.Gln404Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103836.2:n.1195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NR_103837.2:n.1195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460761",
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013601",
      "geneNCBI_id": 26235,
      "geneSymbol": "FBXL4",
      "hgvs": [
        "NM_012160.5:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036292.2:p.Gln404Ter",
        "hgvsWellDefined": "NP_036292.2:p.Gln404_Gln621delinsAlaLeuAsnLeuSerSerCysAspLysLeuProProGlnAlaPheAsnHisIleAlaLysLeuCysSerLeuLysArgLeuValLeuTyrArgThrLysValGluGlnThrAlaLeuLeuSerIleLeuAsnPheCysSerGluLeuGlnHisLeuSerLeuGlySerCysValMetIleGluAspTyrAspValIleAlaSerMetIleGlyAlaLysCysLysLysLeuArgThrLeuAspLeuTrpArgCysLysAsnIleThrGluAsnGlyIleAlaGluLeuAlaSerGlyCysProLeuLeuGluGluLeuAspLeuGlyTrpCysProThrLeuGlnSerSerThrGlyCysPheThrArgLeuAlaHisGlnLeuProAsnLeuGlnLysLeuPheLeuThrAlaAsnArgSerValCysAspThrAspIleAspGluLeuAlaCysAsnCysThrArgLeuGlnGlnLeuAspIleLeuGlyThrArgMetValSerProAlaSerLeuArgLysLeuLeuGluSerCysLysAspLeuSerLeuLeuAspValSerPheCysSerGlnIleAspAsnArgAlaValLeuGluLeuAsnAlaSerPheProLysValPheIleLysLysSerPheThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727846"
    }
  ],
  "type": "nucleotide"
}