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        "hgvsWellDefined": "NP_000511.2:p.Gln47_Thr529delinsTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827363",
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Gln47Ter",
        "hgvsWellDefined": "NP_000511.2:p.Gln47_Thr529delinsTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022665",
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Gln47Ter",
        "hgvsWellDefined": "NP_001305754.1:p.Gln47_Thr540delinsTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.640C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827363",
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Gln47Ter",
        "hgvsWellDefined": "NP_000511.2:p.Gln47_Thr529delinsTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Gln47Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Gln47Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022665",
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Gln47Ter",
        "hgvsWellDefined": "NP_001305754.1:p.Gln47_Thr540delinsTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.181C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.181C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}