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        "hgvsWellDefined": "XP_005264383.1:p.Cys99_Leu176delinsPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 505,
          "referenceAllele": "T",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_006712021.3:c.249T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712084.1:p.Cys83Ter",
        "hgvsWellDefined": "XP_006712084.1:p.Cys83_Leu160delinsPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3582,
          "referenceAllele": "T",
          "start": 3581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004150.1:c.279T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859639.1:p.Cys93Ter",
        "hgvsWellDefined": "XP_016859639.1:p.Cys93_Leu170delinsPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "T",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004151.1:c.249T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859640.1:p.Cys83Ter",
        "hgvsWellDefined": "XP_016859640.1:p.Cys83_Leu160delinsPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "referenceAllele": "T",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_017004152.1:c.138T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859641.1:p.Cys46Ter",
        "hgvsWellDefined": "XP_016859641.1:p.Cys46_Leu123delinsPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "referenceAllele": "T",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "XM_024452913.1:c.249T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308681.1:p.Cys83Ter",
        "hgvsWellDefined": "XP_024308681.1:p.Cys83_Leu160delinsPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658815514",
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "T",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007224",
      "geneNCBI_id": 4358,
      "geneSymbol": "MPV17",
      "hgvs": [
        "NM_002437.5:c.297T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002428.1:p.Cys99Ter",
        "hgvsWellDefined": "NP_002428.1:p.Cys99_Leu176delinsPheLeuGlyCysPheLeuProLeuValGlyAlaLeuAsnGlyLeuSerAlaGlnAspAsnTrpAlaLysLeuGlnArgAspTyrProAspAlaLeuIleThrAsnTyrTyrLeuTrpProAlaValGlnLeuAlaAsnPheTyrLeuValProLeuHisTyrArgLeuAlaValValGlnCysValAlaValIleTrpAsnSerTyrLeuSerTrpLysAlaHisArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665525",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380044.6:c.297T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002437.5:c.297T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369383.1:p.Cys99Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002428.1:p.Cys99Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}