{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16615368",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.1021del (p.Arg341GlyfsTer12)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402022[alleleid]",
        "alleleId": 402022,
        "preferredName": "NM_144997.7(FLCN):c.1021del (p.Arg341fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409378",
        "RCV": [
          "RCV000470306",
          "RCV000485342",
          "RCV000492409"
        ],
        "variationId": 409378
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17122374del?assembly=hg19",
        "id": "chr17:g.17122374del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17219060del?assembly=hg38",
        "id": "chr17:g.17219060del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502368",
        "rs": 1060502368
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17219059-CG-C?dataset=gnomad_r3",
        "id": "17-17219059-CG-C",
        "variant": "17:17219059 CG / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17219059-CG-C?dataset=gnomad_r4",
        "id": "17-17219059-CG-C",
        "variant": "17:17219059 CG / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 17219063,
          "referenceAllele": "G",
          "start": 17219062
        }
      ],
      "hgvs": [
        "NC_000017.11:g.17219063del",
        "CM000679.2:g.17219063del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 17122377,
          "referenceAllele": "G",
          "start": 17122376
        }
      ],
      "hgvs": [
        "NC_000017.10:g.17122377del",
        "CM000679.1:g.17122377del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 17063102,
          "referenceAllele": "G",
          "start": 17063101
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17063102del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23129,
          "referenceAllele": "C",
          "start": 23128
        }
      ],
      "hgvs": [
        "NG_008001.2:g.23129del",
        "LRG_325:g.23129del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.9:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "ENSP00000285071.4:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.1021del"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.1021del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Arg341GlyfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Arg341GlyfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.8:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "ENSP00000285071.4:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 649,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 649,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "hgvs": [
        "ENST00000427497.3:c.149-6del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394249.3:n.149-6del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 44,
          "referenceAllele": "C",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000577591.1:n.44del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.5:c.1021del",
        "LRG_325t1:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "NP_659434.2:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522016.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523715.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522017.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522017.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1954,
          "referenceAllele": "C",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523716.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522018.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522018.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2239,
          "referenceAllele": "C",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523717.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522019.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522019.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522020.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2415,
          "referenceAllele": "C",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522021.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523720.1:c.799del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:p.Arg267GlyfsTer12",
        "hgvsWellDefined": "XP_011522022.1:p.[Arg267_Lys273delinsGly;Leu275_Arg279delinsCys;Val281_Ala284delinsSerSerSer;Phe287_Met296delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "C",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522023.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2415,
          "referenceAllele": "C",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_934007.1:n.2415del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1790,
          "referenceAllele": "C",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "NP_001340158.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.1:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "NP_001340159.1:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1727,
          "referenceAllele": "C",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "NP_001340160.1:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1528,
          "referenceAllele": "C",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "NP_659434.2:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.3:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522016.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.3:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522020.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522021.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.3:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_011522023.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024305.2:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879794.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_016879794.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024308.1:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879797.1:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "XP_016879797.1:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.799del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:p.Arg267GlyfsTer12",
        "hgvsWellDefined": "XP_016879798.1:p.[Arg267_Lys273delinsGly;Leu275_Arg279delinsCys;Val281_Ala284delinsSerSerSer;Phe287_Met296delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2769,
          "referenceAllele": "C",
          "start": 2768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_024450635.1:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306403.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "XP_024306403.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_001752445.2:n.1579del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "NP_659434.2:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.1021del"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.1021del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Arg341GlyfsTer12"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Arg341GlyfsTer12"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1767,
          "referenceAllele": "C",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.1075del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Arg359GlyfsTer12",
        "hgvsWellDefined": "NP_001340158.1:p.[Arg359_Lys365delinsGly;Leu367_Arg371delinsCys;Val373_Ala376delinsSerSerSer;Phe379_Met388delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "NP_001340159.1:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.1021del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Arg341GlyfsTer12",
        "hgvsWellDefined": "NP_001340160.1:p.[Arg341_Lys347delinsGly;Leu349_Arg353delinsCys;Val355_Ala358delinsSerSerSer;Phe361_Met370delinsGlyThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    }
  ],
  "type": "nucleotide"
}