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        "hgvsWellDefined": "NP_000294.1:p.Gln53_Ser246delinsGluGlnLeuGlyAsnAspValValGluLysTyrAspTyrValPheProGluAsnGlyLeuValAlaTyrLysAspGlyLysLeuLeuCysArgGlnAsnIleGlnSerHisLeuGlyGluAlaLeuIleGlnAspLeuIleAsnTyrCysLeuSerTyrIleAlaLysIleLysLeuProLysLysArgGlyThrPheIleGluPheArgAsnGlyMetLeuAsnValSerProIleGlyArgSerCysSerGlnGluGluArgIleGluPheTyrGluLeuAspLysLysGluAsnIleArgGlnLysPheValAlaAspLeuArgLysGluPheAlaGlyLysGlyLeuThrPheSerIleGlyGlyGlnIleSerPheAspValPheProAspGlyTrpAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProGlyGlyAsnAspHisGluIlePheThrAspProArgThrMetGlyTyrSerValThrAlaProGluAspThrArgArgIleCysGluLeuLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_005255372.3:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255429.1:p.Gln53Ter",
        "hgvsWellDefined": "XP_005255429.1:p.Gln53_Leu270delinsGluGlnLeuGlyAsnAspValValGluLysTyrAspTyrValPheProGluAsnGlyLeuValAlaTyrLysAspGlyLysLeuLeuCysArgGlnAsnIleGlnSerHisLeuGlyGluAlaLeuIleGlnAspLeuIleAsnTyrCysLeuSerTyrIleAlaLysIleLysLeuProLysLysArgGlyThrPheIleGluPheArgAsnGlyMetLeuAsnValSerProIleGlyArgSerCysSerGlnGluGluArgIleGluPheTyrGluLeuAspLysLysGluAsnIleArgGlnLysPheValAlaAspLeuArgLysGluPheAlaGlyLysGlyLeuThrPheSerIleGlyGlyGlnIleSerPheAspValPheProAspGlyTrpAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProLeuLeuTrpTyrAlaSerSerThrGlnProGlnGluGlyCysThrProGlyArgSerProProCysSerGluSerHisLysGluArgSerArgProLeuAlaGlyGluLysGlyArgProGluAlaGlyCysValCysAspAlaAspAlaProAlaSerArgAlaAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_005255373.3:c.-16C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255430.1:n.-16C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_005255374.3:c.-16C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255431.1:n.-16C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_011522538.1:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520840.1:p.Gln53Ter",
        "hgvsWellDefined": "XP_011520840.1:p.Gln53_Ser259delinsGluGlnLeuGlyAsnAspValValGluLysTyrAspTyrValPheProGluAsnGlyLeuValAlaTyrLysAspGlyLysLeuLeuCysArgGlnAsnIleGlnSerHisLeuGlyGluAlaLeuIleGlnAspLeuIleAsnTyrCysLeuSerTyrIleAlaLysIleLysLeuProLysLysArgGlyThrPheIleGluPheArgAsnGlyMetLeuAsnValSerProIleGlyArgSerCysSerGlnGluGluArgIleGluPheTyrGluLeuAspLysLysGluAsnIleArgGlnLysPheValAlaAspLeuArgLysGluPheAlaGlyLysGlyLeuThrPheSerIleGlyGlyGlnIleSerPheAspValPheProAspGlyTrpAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProGluIleLeuGluArgAspHisAlaArgLeuLysProArgLeuValTrpLysAsnValIleSerSerValCysCysLeuLeuProAlaLysSerProThrSerThrGlyGlnGlyValLeuProProSerProArgSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68,
          "referenceAllele": "C",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_011522539.1:c.-50C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520841.1:n.-50C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "referenceAllele": "C",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_005255374.4:c.-16C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255431.1:n.-16C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468501",
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NM_000303.3:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000294.1:p.Gln53Ter",
        "hgvsWellDefined": "NP_000294.1:p.Gln53_Ser246delinsGluGlnLeuGlyAsnAspValValGluLysTyrAspTyrValPheProGluAsnGlyLeuValAlaTyrLysAspGlyLysLeuLeuCysArgGlnAsnIleGlnSerHisLeuGlyGluAlaLeuIleGlnAspLeuIleAsnTyrCysLeuSerTyrIleAlaLysIleLysLeuProLysLysArgGlyThrPheIleGluPheArgAsnGlyMetLeuAsnValSerProIleGlyArgSerCysSerGlnGluGluArgIleGluPheTyrGluLeuAspLysLysGluAsnIleArgGlnLysPheValAlaAspLeuArgLysGluPheAlaGlyLysGlyLeuThrPheSerIleGlyGlyGlnIleSerPheAspValPheProAspGlyTrpAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProGlyGlyAsnAspHisGluIlePheThrAspProArgThrMetGlyTyrSerValThrAlaProGluAspThrArgArgIleCysGluLeuLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268261.9:c.157C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000303.3:c.157C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268261.4:p.Gln53Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000294.1:p.Gln53Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}