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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA166645",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151579[alleleid]",
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        "preferredName": "NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141865",
        "RCV": [
          "RCV000130556",
          "RCV000239654",
          "RCV000255173",
          "RCV002498642"
        ],
        "variationId": 141865
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17127355G>A?assembly=hg19",
        "id": "chr17:g.17127355G>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17224041G>A?assembly=hg38",
        "id": "chr17:g.17224041G>A"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/587782069",
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        "@id": "http://gnomad.broadinstitute.org/variant/17-17224041-G-A?dataset=gnomad_r4",
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "17",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS274164"
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          "endIntronDirection": "+",
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      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "endIntronDirection": "-",
          "endIntronOffset": 1379,
          "referenceAllele": "C",
          "start": 1736,
          "startIntronDirection": "-",
          "startIntronOffset": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
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      "hgvs": [
        "XM_011523720.1:c.397-1380C>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
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        "XR_934007.1:n.1893C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS129452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035773",
      "coordinates": [
        {
          "allele": "T",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827720290",
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
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      ],
      "gene": "http://reg.genome.network/gene/GN027310",
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      "hgvs": [
        "NM_001353230.1:c.499C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340159.1:p.Gln167_Asn579delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721719",
      "coordinates": [
        {
          "allele": "T",
          "end": 1205,
          "referenceAllele": "C",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
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      "hgvs": [
        "NM_001353231.1:c.499C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340160.1:p.Gln167_Asn579delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830284313",
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "C",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.6:c.499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gln167Ter",
        "hgvsWellDefined": "NP_653207.1:p.Gln167_Val342delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaGlyGluAlaGlyValLeuLeuProGlyProTrpProGlyTrpProTrpGlyGlyThrSerCysLeuLeuSerTrpGlnGluSerLeuArgGluGlyAsnAlaAlaLeuAsnGlnProArgThrSerLeuArgGluAlaHisProProIleSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166647",
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        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
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      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.3:c.553C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011522016.1:p.Gln185_Asn597delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
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      "geneNCBI_id": 201163,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1056
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
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      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "referenceAllele": "C",
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        }
      ],
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        "hgvsWellDefined": "XP_016879794.1:p.Gln185_Asn597delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "endIntronDirection": "-",
          "endIntronOffset": 1379,
          "referenceAllele": "C",
          "start": 900,
          "startIntronDirection": "-",
          "startIntronOffset": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
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        {
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          "start": 2246
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024306403.1:p.Gln185_Asn597delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
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      "hgvs": [
        "XR_001752445.2:n.1057C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166647",
      "coordinates": [
        {
          "allele": "T",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_659434.2:p.Gln167_Asn579delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.499C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.499C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Gln167Ter"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gln167Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035773",
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "C",
          "start": 1244
        }
      ],
      "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.Gln185_Asn597delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827720290",
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Gln167Ter",
        "hgvsWellDefined": "NP_001340159.1:p.Gln167_Asn579delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721719",
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gln167Ter",
        "hgvsWellDefined": "NP_001340160.1:p.Gln167_Asn579delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaAspLeuGluGluGluSerGluSerTrpAspAsnSerGluAlaGluGluGluGluLysAlaProValLeuProGluSerThrGluGlyArgGluLeuThrGlnGlyProAlaGluSerSerSerLeuSerGlyCysGlySerTrpGlnProArgLysLeuProValPheLysSerLeuArgHisMetArgGlnValLeuGlyAlaProSerPheArgMetLeuAlaTrpHisValLeuMetGlyAsnGlnValIleTrpLysSerArgAspValAspLeuValGlnSerAlaPheGluValLeuArgThrMetLeuProValGlyCysValArgIleIleProTyrSerSerGlnTyrGluGluAlaTyrArgCysAsnPheLeuGlyLeuSerProHisValGlnIleProProHisValLeuSerSerGluPheAlaValIleValGluValHisAlaAlaAlaArgSerThrLeuHisProValGlyCysGluAspAspGlnSerLeuSerLysTyrGluPheValValThrSerGlySerProValAlaAlaAspArgValGlyProThrIleLeuAsnLysIleGluAlaAlaLeuThrAsnGlnAsnLeuSerValAspValValAspGlnCysLeuValCysLeuLysGluGluTrpMetAsnLysValLysValLeuPheLysPheThrLysValAspSerArgProLysGluAspThrGlnLysLeuLeuSerIleLeuGlyAlaSerGluGluAspAsnValLysLeuLeuLysPheTrpMetThrGlyLeuSerLysThrTyrLysSerHisLeuMetSerThrValArgSerProThrAlaSerGluSerArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830284313",
      "coordinates": [
        {
          "allele": "T",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.499C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gln167Ter",
        "hgvsWellDefined": "NP_653207.1:p.Gln167_Val342delinsArgTrpTyrSerIleIleThrIleMetMetAspArgIleTyrLeuIleAsnSerTrpProPheLeuLeuGlyLysValArgGlyIleIleAspGluLeuGlnGlyLysAlaLeuLysValPheGluAlaGluGlnPheGlyCysProGlnArgAlaGlnArgMetAsnThrAlaPheThrProPheLeuHisGlnArgAsnGlyAsnAlaAlaArgSerLeuThrSerLeuThrSerAspAspAsnLeuTrpAlaCysLeuHisThrSerPheAlaTrpLeuLeuLysAlaCysGlySerArgLeuThrGluLysLeuLeuGluGlyAlaProThrGluAspThrLeuValGlnMetGluLysLeuAlaGlyGluAlaGlyValLeuLeuProGlyProTrpProGlyTrpProTrpGlyGlyThrSerCysLeuLeuSerTrpGlnGluSerLeuArgGluGlyAsnAlaAlaLeuAsnGlnProArgThrSerLeuArgGluAlaHisProProIleSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
    }
  ],
  "type": "nucleotide"
}