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      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.1:c.6517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Arg2173Ter",
        "hgvsWellDefined": "NP_001153699.1:p.Arg2173_Gly2330delinsGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344385",
      "coordinates": [
        {
          "allele": "T",
          "end": 6887,
          "referenceAllele": "C",
          "start": 6886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.3:c.6856C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Arg2286Ter",
        "hgvsWellDefined": "NP_079413.3:p.Arg2286_Gly2443delinsGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6623,
          "referenceAllele": "C",
          "start": 6622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_005254695.3:c.6598C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254752.1:p.Arg2200Ter",
        "hgvsWellDefined": "XP_005254752.1:p.Arg2200_Gly2357delinsGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6743,
          "referenceAllele": "C",
          "start": 6742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.6712C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:p.Arg2238Ter",
        "hgvsWellDefined": "XP_006720763.1:p.Arg2238_Gly2395delinsGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6779,
          "referenceAllele": "C",
          "start": 6778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.6748C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Arg2250Ter",
        "hgvsWellDefined": "XP_016878123.1:p.Arg2250_Gly2407delinsGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4696,
          "referenceAllele": "C",
          "start": 4695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022636.1:c.3733C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878125.1:p.Arg1245Ter",
        "hgvsWellDefined": "XP_016878125.1:p.Arg1245_Gly1402delinsGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344385",
      "coordinates": [
        {
          "allele": "T",
          "end": 6871,
          "referenceAllele": "C",
          "start": 6870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.6856C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Arg2286Ter",
        "hgvsWellDefined": "NP_079413.3:p.Arg2286_Gly2443delinsGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.6856C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.6856C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Arg2286Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Arg2286Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825948555",
      "coordinates": [
        {
          "allele": "T",
          "end": 6532,
          "referenceAllele": "C",
          "start": 6531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.6517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Arg2173Ter",
        "hgvsWellDefined": "NP_001153699.1:p.Arg2173_Gly2330delinsGlnAlaGlnHisCysGlnArgLeuThrLysLeuIleThrLeuGlnIleHisPheLeuAsnThrGlyGlnAsnThrMetLeuIleAsnLeuGlyArgHisLysLeuMetAspCysIleLeuAlaLeuProArgPheTyrGlnAlaSerIleValAlaGluAlaTyrAspPheValProAspTrpAlaGluIleLeuTyrGlnGlnValIleLeuLysGlyAspPheAsnTyrLeuGluGluPheLysGlnGlnArgLeuLeuLysSerSerIlePheGluGluIleSerLysLysTyrLysGlnHisGlnProThrAspMetValMetGluAsnLeuLysLysLeuLeuThrTyrCysGluAspValTyrLeuTyrTyrLysLeuAlaTyrGluHisLysPheTyrGluIleValAsnValLeuLeuLysAspProGlnThrGlyCysCysLeuLysAspMetLeuAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}