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  "@id": "http://reg.genome.network/allele/CA10586270",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.634C>T (p.Gln212Ter)"
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        "RCV": [
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          "RCV003165678"
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          "endIntronDirection": "-",
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    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Gln230Ter",
        "hgvsWellDefined": "XP_011522020.1:p.Gln230_Asn597delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Gln230Ter",
        "hgvsWellDefined": "XP_011522021.1:p.Gln230_Ala537delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetLysSerPheProSerProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "referenceAllele": "C",
          "start": 1751
        }
      ],
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      "geneNCBI_id": 201163,
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      "hgvs": [
        "XM_011523720.1:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:p.Gln138Ter",
        "hgvsWellDefined": "XP_011522022.1:p.Gln138_Asn505delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
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        "hgvsWellDefined": "XP_011522023.1:p.Gln230_Asn597delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
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      "hgvs": [
        "XR_934007.1:n.2028C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS129452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035805",
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340158.1:p.Gln230_Asn597delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827720412",
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "referenceAllele": "C",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340159.1:p.Gln212_Asn579delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721841",
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gln212Ter",
        "hgvsWellDefined": "NP_001340160.1:p.Gln212_Asn579delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830284435",
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.6:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gln212Ter",
        "hgvsWellDefined": "NP_653207.1:p.Gln212_Val342delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaGlyGluAlaGlyValLeuLeuProGlyProTrpProGlyTrpProTrpGlyGlyThrSerCysLeuLeuSerTrpGlnGluSerLeuArgGluGlyAsnAlaAlaLeuAsnGlnProArgThrSerLeuArgGluAlaHisProProIleSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426503",
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gln212Ter",
        "hgvsWellDefined": "NP_659434.2:p.Gln212_Asn579delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.3:c.688C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011522016.1:p.Gln230_Asn597delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.3:c.688C>T"
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      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Gln230Ter",
        "hgvsWellDefined": "XP_011522020.1:p.Gln230_Asn597delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Gln230Ter",
        "hgvsWellDefined": "XP_011522021.1:p.Gln230_Ala537delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetLysSerPheProSerProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "referenceAllele": "C",
          "start": 936
        }
      ],
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      "geneSymbol": "FLCN",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011522023.1:p.Gln230_Asn597delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
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      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016879797.1:p.Gln212_Asn579delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.412C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016879798.1:p.Gln138_Asn505delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2382,
          "referenceAllele": "C",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
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      "hgvs": [
        "XM_024450635.1:c.688C>T"
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      "proteinEffect": {
        "hgvs": "XP_024306403.1:p.Gln230Ter",
        "hgvsWellDefined": "XP_024306403.1:p.Gln230_Asn597delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_001752445.2:n.1192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426503",
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.634C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_659434.2:p.Gln212_Asn579delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.634C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.634C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Gln212Ter"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gln212Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035805",
      "coordinates": [
        {
          "allele": "T",
          "end": 1380,
          "referenceAllele": "C",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Gln230Ter",
        "hgvsWellDefined": "NP_001340158.1:p.Gln230_Asn597delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827720412",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.634C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340159.1:p.Gln212_Asn579delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721841",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gln212Ter",
        "hgvsWellDefined": "NP_001340160.1:p.Gln212_Asn579delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830284435",
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gln212Ter",
        "hgvsWellDefined": "NP_653207.1:p.Gln212_Val342delinsPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaGlyGluAlaGlyValLeuLeuProGlyProTrpProGlyTrpProTrpGlyGlyThrSerCysLeuLeuSerTrpGlnGluSerLeuArgGluGlyAsnAlaAlaLeuAsnGlnProArgThrSerLeuArgGluAlaHisProProIleSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
    }
  ],
  "type": "nucleotide"
}