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  "@id": "http://reg.genome.network/allele/CA344310",
  "communityStandardTitle": [
    "NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41284",
        "RCV": [
          "RCV000034185",
          "RCV003317055"
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        "variationId": 41284
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/15-44920983-G-A",
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        "variant": "15:44920983 G / A"
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    ],
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        "@id": "http://myvariant.info/v1/variant/chr15:g.44920983G>A?assembly=hg19",
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    ],
    "MyVariantInfo_hg38": [
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199588440",
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    ],
    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/15-44920983-G-A?dataset=gnomad_r2_1",
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        "variant": "15:44920983 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44628785-G-A?dataset=gnomad_r3",
        "id": "15-44628785-G-A",
        "variant": "15:44628785 G / A"
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-44628785-G-A?dataset=gnomad_r4",
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      }
    ]
  },
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      "chromosome": "15",
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      ],
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        "CM000677.2:g.44628785G>A"
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "15",
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    {
      "chromosome": "15",
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      "referenceGenome": "NCBI36",
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    },
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      "coordinates": [
        {
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        }
      ],
      "hgvs": [
        "NG_008885.1:g.39894C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000559511.6:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453246.2:p.Arg651Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS826071"
    },
    {
      "coordinates": [
        {
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      ],
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        "ENST00000682065.1:c.1951C>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS827063"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 1979
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS827402"
    },
    {
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        {
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        "ENST00000682460.1:c.1951C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 1981
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
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      "proteinEffect": {
        "hgvs": "ENSP00000507782.1:p.Arg651Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS827658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
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          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000508089.1:p.Arg651_Asp1639delinsThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrLeuAsnThrAlaAlaThrLysValHisProValIleProAlaMetTrpLeuGluAspGlnValCysPheLeuLeuLysLeuMetLeuGlnGlnCysLysThrGlnTyrGluLeuGlyLysLeuLeuGlnLeuPheValGluArgGluHisLeuPheSerAspGlyLysGluAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682877.1:n.1982C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS827865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
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      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000682915.1:c.1951C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000507493.1:p.Arg651Ter",
        "hgvsWellDefined": "ENSP00000507493.1:p.Arg651_Leu1197delinsThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyGlyIleArgSerGlnCysGluLysSerLeuGluPheHisGluLysThrGlnLeuTyrPheArgAsnLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "ENST00000683121.1:c.1951C>T"
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    {
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      ],
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      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_005254695.3:c.1693C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254752.1:p.Arg565Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720700.1:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720763.1:p.Arg651Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.2:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:p.Arg651Ter",
        "hgvsWellDefined": "XP_006720764.1:p.Arg651_Met1584delinsThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrValGlnMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_011522093.1:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520395.1:p.Arg651Ter",
        "hgvsWellDefined": "XP_011520395.1:p.Arg651_Ile1233delinsThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuArgLysThrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.1:n.1982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_006720701.3:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720764.1:p.Arg651Ter",
        "hgvsWellDefined": "XP_006720764.1:p.Arg651_Met1584delinsThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrValGlnMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022634.1:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878123.1:p.Arg651Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XM_017022635.2:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878124.1:p.Arg651Ter",
        "hgvsWellDefined": "XP_016878124.1:p.Arg651_Lys1600delinsThrPheMetIleLysPheProTrpLysLeuThrAspAlaIleAspGluTyrAspValHisGluAsnValProLysValLysGluSerAsnIleTrpLysLysLeuSerPheGluGluValIleAlaSerAlaIleLeuAsnAsnLysIleProGluAlaGlnThrPhePheArgIleAspSerHisSerAlaGlnLysLeuGluGluLeuIleGlyIleGlyLeuAsnLeuValPheAspAsnLeuLysLysAsnAsnIleLysGluAlaSerGluLeuLeuLysAsnMetGlyPheAspValLysGlyGlnLeuLeuLysIleCysPheTyrThrThrAsnLysAsnIleArgAspPheLeuValGluIleLeuLysGluLysAsnTyrPheSerGluLysGluLysArgThrIleAspPheValHisGlnValGluLysLeuTyrLeuGlyHisPheGlnGluAsnMetGlnIleGlnSerPheProArgTyrTrpIleLysGluGlnAspPhePheLysHisLysSerValLeuAspSerPheLeuLysTyrAspCysLysAspGluPheAsnLysGlnAspHisArgIleValLeuAsnTrpAlaLeuTrpTrpAspGlnLeuThrGlnGluSerIleLeuLeuProArgIleSerProGluGluTyrLysSerTyrSerProGluAlaLeuTrpArgTyrLeuThrAlaArgHisAspTrpLeuAsnIleIleLeuTrpIleGlyGluPheGlnThrGlnHisSerTyrAlaSerLeuGlnGlnAsnLysTrpProLeuLeuThrValAspValIleAsnGlnAsnThrSerCysAsnAsnTyrMetArgAsnGluIleLeuAspLysLeuAlaArgAsnGlyValPheLeuAlaSerGluLeuGluAspPheGluCysPheLeuLeuArgLeuSerArgIleGlyGlyValIleGlnAspThrLeuProValGlnAsnTyrLysThrLysGluGlyTrpAspPheHisSerGlnPheIleLeuTyrCysLeuGluHisSerLeuGlnHisLeuLeuTyrValTyrLeuAspCysTyrLysLeuSerProGluAsnCysProPheLeuGluLysLysGluLeuHisGluAlaHisProTrpPheGluPheLeuValGlnCysArgGlnValAlaSerAsnLeuThrAspProLysLeuIlePheGlnAlaSerLeuAlaAsnAlaGlnIleLeuIleProThrAsnGlnAlaSerValSerSerMetLeuLeuGluGlyHisThrLeuLeuAlaLeuAlaThrThrMetTyrSerProGlyGlyValSerGlnValValGlnAsnGluGluAsnGluAsnCysLeuLysLysValAspProGlnLeuLeuLysMetAlaLeuThrProTyrProLysLeuLysThrAlaLeuPheProGlnCysThrProProSerValLeuProSerAspIleThrIleTyrHisLeuIleGlnSerLeuSerProPheAspProSerArgLeuPheGlyTrpGlnSerAlaAsnThrLeuAlaIleGlyAspAlaTrpSerHisLeuProHisPheSerSerProAspLeuValAsnLysTyrAlaIleValGluArgLeuAsnPheAlaTyrTyrLeuHisAsnGlyArgProSerPheAlaPheGlyThrPheLeuValGlnGluLeuIleLysSerLysThrProLysGlnLeuIleGlnGlnValGlyAsnGluAlaTyrValIleGlyLeuSerSerPheHisIleProSerIleGlyAlaAlaCysValCysPheLeuGluLeuLeuGlyLeuAspSerLeuLysLeuArgValAspMetLysValAlaAsnIleIleLeuSerTyrLysCysArgAsnGluAspAlaGlnTyrSerPheIleArgGluSerValAlaGluLysLeuSerLysLeuAlaAspGlyGluLysThrThrThrGluGluLeuLeuValLeuLeuGluGluGlyThrTrpAsnSerIleGlnGlnGlnGluIleLysArgLeuSerSerGluSerSerSerGlnTrpAlaLeuValValGlnPheCysArgLeuHisAsnMetLysLeuSerIleSerTyrLeuArgGluCysAlaLysAlaAsnAspTrpLeuGlnPheIleIleHisSerGlnLeuHisAsnTyrHisProAlaGluValLysSerLeuIleGlnTyrPheSerProValIleGlnAspHisLeuArgLeuAlaPheGluAsnLeuProSerValProThrSerLysMetAspSerAspGlnValCysAsnLysCysProGlnGluLeuGlnGlySerLysGlnGluMetThrAspLeuPheGluIleLeuLeuGlnCysSerGluGluProAspSerTrpHisTrpLeuLeuValGluAlaValLysGlnGlnAlaProIleLeuSerValLeuAlaSerCysLeuGlnGlyAlaSerAlaIleSerCysLeuCysValTrpIleIleThrSerValGluAspAsnValAlaThrGluAlaMetGlyHisIleGlnAspSerThrGluAspHisThrTrpAsnLeuGluAspLeuSerValIleTrpArgThrLeuLeuThrArgGlnLysSerLysThrLeuIleArgGlyPheGlnLeuPhePheLysAspSerProLeuLeuLeuValMetGluMetTyrGluLeuCysMetPhePheArgAsnTyrLysGluAlaGluAlaLysLeuLeuGluPheGlnLysSerLeuGluThrSerArgValAsnTyrGluThrIleValThrGluAsnGlnIleLeuValPheGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_001751402.1:n.1982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "C",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "XR_931917.2:n.1982C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "C",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_025137.4:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079413.3:p.Arg651Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261866.12:c.1951C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025137.4:c.1951C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261866.7:p.Arg651Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079413.3:p.Arg651Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "C",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011226",
      "geneNCBI_id": 80208,
      "geneSymbol": "SPG11",
      "hgvs": [
        "NM_001160227.2:c.1951C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153699.1:p.Arg651Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678139"
    }
  ],
  "type": "nucleotide"
}