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      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004151.1:c.357C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859640.1:p.Tyr119Ter",
        "hgvsWellDefined": "XP_016859640.1:p.Tyr120_Leu160delinsLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004152.1:c.246C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859641.1:p.Tyr82Ter",
        "hgvsWellDefined": "XP_016859641.1:p.Tyr83_Leu123delinsLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_024452913.1:c.357C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308681.1:p.Tyr119Ter",
        "hgvsWellDefined": "XP_024308681.1:p.Tyr120_Leu160delinsLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573081826",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.5:c.405C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Tyr135Ter",
        "hgvsWellDefined": "NP_002428.1:p.Tyr136_Leu176delinsLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.405C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.405C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:p.Tyr135Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:p.Tyr135Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}