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        "hgvsWellDefined": "XP_011525606.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094398"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
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        "hgvsWellDefined": "XP_011525607.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094399"
    },
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        {
          "allele": "T",
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          "referenceAllele": "G",
          "start": 1037
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1087,
          "referenceAllele": "G",
          "start": 1086
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      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011525609.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
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      "hgvs": [
        "XM_005259247.2:c.892G>T"
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      "proteinEffect": {
        "hgvs": "XP_005259304.1:p.Gly298Ter",
        "hgvsWellDefined": "XP_005259304.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
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      ],
      "gene": "http://reg.genome.network/gene/GN017997",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005259305.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534969"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005259306.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "G",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011525608.1:p.Gly298Ter",
        "hgvsWellDefined": "XP_011525608.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016882786.1:p.Gly298Ter",
        "hgvsWellDefined": "XP_016882786.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_024307475.1:p.Gly298Ter",
        "hgvsWellDefined": "XP_024307475.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825388457",
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_001039885.3:c.892G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034974.1:p.Gly298Ter",
        "hgvsWellDefined": "NP_001034974.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573285650",
      "coordinates": [
        {
          "allele": "T",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017997",
      "geneNCBI_id": 79147,
      "geneSymbol": "FKRP",
      "hgvs": [
        "NM_024301.5:c.892G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077277.1:p.Gly298Ter",
        "hgvsWellDefined": "NP_077277.1:p.Gly298_Gly495delinsThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698678",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318584.10:c.892G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024301.5:c.892G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326570.4:p.Gly298Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077277.1:p.Gly298Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}