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        "hgvsWellDefined": "ENSP00000508110.1:p.Ser52_Leu473delinsAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172,
          "referenceAllele": "C",
          "start": 171
        }
      ],
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      "geneNCBI_id": 3073,
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      "hgvs": [
        "ENST00000683735.1:c.155C>A"
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        "hgvsWellDefined": "ENSP00000508336.1:p.Ser52_Ser121delinsAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGluThrGlyLeuSerLeuSerPheArgLeuGluCysSerGlyValIleThrAlaTyrSerAsnLeuGluLeuGlnAspSerSerSerLeuProAlaSerLeuMetSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
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        {
          "allele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
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        {
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
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        }
      ],
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      "hgvs": [
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        {
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      },
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            "hgvs": "NM_000520.6:c.155C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
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      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
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      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379965"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
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      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Ser52Ter",
        "hgvsWellDefined": "NP_000511.2:p.Ser52_Thr529delinsAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468235",
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.155C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Ser52Ter",
        "hgvsWellDefined": "NP_000511.2:p.Ser52_Thr529delinsAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022666",
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.155C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Ser52Ter",
        "hgvsWellDefined": "NP_001305754.1:p.Ser52_Thr540delinsAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.656C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468235",
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.155C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Ser52Ter",
        "hgvsWellDefined": "NP_000511.2:p.Ser52_Thr529delinsAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.155C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.155C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Ser52Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Ser52Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022666",
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.155C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Ser52Ter",
        "hgvsWellDefined": "NP_001305754.1:p.Ser52_Thr540delinsAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.197C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.197C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}