{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409911017",
  "communityStandardTitle": [
    "NM_001352514.2(HLCS):c.1602C>G (p.Tyr534Ter)"
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        "@id": "http://myvariant.info/v1/variant/chr21:g.38302569G>C?assembly=hg19",
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      }
    ],
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        "@id": "http://myvariant.info/v1/variant/chr21:g.36930269G>C?assembly=hg38",
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      "chromosome": "21",
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      "referenceGenome": "NCBI36",
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    },
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        "maneVersion": "1.3",
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      "referenceSequence": "http://reg.genome.network/refseq/RS774785"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774931"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775144"
    },
    {
      "coordinates": [
        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN004976",
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      "referenceSequence": "http://reg.genome.network/refseq/RS322012"
    },
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      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001229714.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260953.2:c.1602C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261010.1:p.Tyr534Ter",
        "hgvsWellDefined": "XP_005261010.1:p.Tyr534_Arg873delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260954.1:c.1602C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261011.1:p.Tyr534Ter",
        "hgvsWellDefined": "XP_005261011.1:p.Tyr534_Phe751delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleValArgLeuArgTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260955.2:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261012.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_005261012.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260956.2:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261013.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_005261013.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062992"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723994.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724057.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_006724057.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "C",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723995.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724058.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_006724058.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529538.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527840.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_011527840.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_011527841.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529540.1:c.1602C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527842.1:p.Tyr534Ter",
        "hgvsWellDefined": "XP_011527842.1:p.Tyr534_Cys636delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyAlaGlyCysThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529541.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527843.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_011527843.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529542.1:c.1602C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527844.1:p.Tyr534Ter",
        "hgvsWellDefined": "XP_011527844.1:p.Tyr534_Gly550delinsLeuLeuSerAlaAlaGluAlaLeuLeuAsnThrGlyValArgValGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1790,
          "referenceAllele": "C",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.7:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Tyr387Ter",
        "hgvsWellDefined": "NP_000402.3:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2609,
          "referenceAllele": "C",
          "start": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.2:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001229713.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.2:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001229714.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.1:c.1602C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Tyr534Ter",
        "hgvsWellDefined": "NP_001339443.1:p.Tyr534_Arg873delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001339444.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001339445.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352517.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339446.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001339446.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001339447.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520957"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.1:n.1644C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148021.1:n.1618C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1627,
          "referenceAllele": "C",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.3:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_011527841.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529540.2:c.1602C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527842.1:p.Tyr534Ter",
        "hgvsWellDefined": "XP_011527842.1:p.Tyr534_Cys636delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyAlaGlyCysThrCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1424,
          "referenceAllele": "C",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_017028330.1:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883819.1:p.Tyr387Ter",
        "hgvsWellDefined": "XP_016883819.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452065.1:c.990C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307833.1:p.Tyr330Ter",
        "hgvsWellDefined": "XP_024307833.1:p.Tyr330_Arg669delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452066.1:c.990C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307834.1:p.Tyr330Ter",
        "hgvsWellDefined": "XP_024307834.1:p.Tyr330_Arg669delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754835.1:n.1603C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754836.1:n.1603C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754837.2:n.1603C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754840.1:n.1603C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.8:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Tyr387Ter",
        "hgvsWellDefined": "NP_000402.3:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2588,
          "referenceAllele": "C",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.3:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001229713.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.2:c.1602C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Tyr534Ter",
        "hgvsWellDefined": "NP_001339443.1:p.Tyr534_Arg873delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1602C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1602C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Tyr534Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Tyr534Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.2:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001339444.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.2:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001339445.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.2:n.1461C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.2:c.1161C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Tyr387Ter",
        "hgvsWellDefined": "NP_001339447.1:p.Tyr387_Arg726delinsLeuLeuSerAlaAlaGluGluIleArgAspProLeuMetGlnTrpLeuGlyLysHisValAspSerGluGlyGluIleLysSerGlyGlnLeuSerLeuArgPheValSerSerTyrValSerGluValGluIleThrProSerCysIleProValValThrAsnMetGluAlaPheSerSerGluHisPheAsnLeuGluIleTyrArgGlnAsnLeuGlnThrLysGlnLeuGlyLysValIleLeuPheAlaGluValThrProThrThrMetArgLeuLeuAspGlyLeuMetPheGlnThrProGlnGluMetGlyLeuIleValIleAlaAlaArgGlnThrGluGlyLysGlyArgGlyGlyAsnValTrpLeuSerProValGlyCysAlaLeuSerThrLeuLeuIleSerIleProLeuArgSerGlnLeuGlyGlnArgIleProPheValGlnHisLeuMetSerValAlaValValGluAlaValArgSerIleProGluTyrGlnAspIleAsnLeuArgValLysTrpProAsnAspIleTyrTyrSerAspLeuMetLysIleGlyGlyValLeuValAsnSerThrLeuMetGlyGluThrPheTyrIleLeuIleGlyCysGlyPheAsnValThrAsnSerAsnProThrIleCysIleAsnAspLeuIleThrGluTyrAsnLysGlnHisLysAlaGluLeuLysProLeuArgAlaAspTyrLeuIleAlaArgValValThrValLeuGluLysLeuIleLysGluPheGlnAspLysGlyProAsnSerValLeuProLeuTyrTyrArgTyrTrpValHisSerGlyGlnGlnValHisLeuGlySerAlaGluGlyProLysValSerIleValGlyLeuAspAspSerGlyPheLeuGlnValHisGlnGluGlyGlyGluValValThrValHisProAspGlyAsnSerPheAspMetLeuArgAsnLeuIleLeuProLysArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720071"
    }
  ],
  "type": "nucleotide"
}