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      "proteinEffect": {
        "hgvs": "NP_001157289.1:p.Trp371Ter",
        "hgvsWellDefined": "NP_001157289.1:p.Trp371_Phe475delinsGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915974567",
      "coordinates": [
        {
          "allele": "A",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NM_001360.3:c.1113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351.2:p.Trp371Ter",
        "hgvsWellDefined": "NP_001351.2:p.Trp371_Phe475delinsGlyArgLysProLysValIleGluCysSerTyrThrSerAlaAspGlyGlnArgHisHisSerLysLeuLeuValSerGlyPheTrpGlyValAlaArgHisPheAsnTyrValGlyAspLeuMetGlySerLeuAlaTyrCysLeuAlaCysGlyGlyGlyHisLeuLeuProTyrPheTyrIleIleTyrMetAlaIleLeuLeuThrHisArgCysLeuArgAspGluHisArgCysAlaSerLysTyrGlyArgAspTrpGluArgTyrThrAlaAlaValProTyrArgLeuLeuProGlyIlePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690492",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355527.8:c.1113G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001360.3:c.1113G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347717.4:p.Trp371Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001351.2:p.Trp371Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}