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        "hgvsWellDefined": "XP_011520395.1:p.Gln479_Ile1233delinsLeuCysPheValLeuThrGluAsnGlyLeuSerLeuIleLeuPheGlyLeuThrGlnGluGluPheLeuAsnArgLeuMetIleHisGlySerAlaSerThrValAspThrLeuCysHisLeuAsnGlyTrpGlyArgCysSerIleProIleHisAlaLeuGluAlaGlyIleGluAsnArgGlnLeuAspThrValAsnPhePheLeuLysSerLysGluAsnLeuPheAsnProSerSerLysSerSerValSerAspGlnPheAspHisLeuSerSerHisLeuTyrLeuArgAsnValGluGluLeuIleProAlaLeuAspLeuLeuCysSerAlaIleArgGluSerTyrSerGluProGlnSerLysHisPheSerGluGlnLeuLeuAsnLeuThrLeuSerPheLeuAsnAsnGlnIleLysGluLeuPheIleHisThrGluGluLeuAspGluHisLeuGlnLysGlyValAsnIleLeuThrSerTyrIleAsnGluLeuArgThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuArgLysThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.1:n.1463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.3:c.1432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:p.Gln478Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.1432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Gln478Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022635.2:c.1432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878124.1:p.Gln478Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_001751402.1:n.1463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.2:n.1463C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.1432C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Gln478Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.1432C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.1432C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Gln478Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Gln478Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.1432C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Gln478Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}