{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8416538",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.33C>T (p.Cys11=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3717201",
        "active": true,
        "id": "COSM3717201"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3717202",
        "active": true,
        "id": "COSM3717202"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=478617[alleleid]",
        "alleleId": 478617,
        "preferredName": "NM_144997.7(FLCN):c.33C>T (p.Cys11=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/485601",
        "RCV": [
          "RCV000566419",
          "RCV000701230"
        ],
        "variationId": 485601
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-17131419-G-A",
        "id": "17-17131419-G-A",
        "variant": "17:17131419 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17131419G>A?assembly=hg19",
        "id": "chr17:g.17131419G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17228105G>A?assembly=hg38",
        "id": "chr17:g.17228105G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754616167",
        "rs": 754616167
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17131419-G-A?dataset=gnomad_r2_1",
        "id": "17-17131419-G-A",
        "variant": "17:17131419 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17228105-G-A?dataset=gnomad_r3",
        "id": "17-17228105-G-A",
        "variant": "17:17228105 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17228105-G-A?dataset=gnomad_r4",
        "id": "17-17228105-G-A",
        "variant": "17:17228105 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17228105,
          "referenceAllele": "G",
          "start": 17228104
        }
      ],
      "hgvs": [
        "NC_000017.11:g.17228105G>A",
        "CM000679.2:g.17228105G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17131419,
          "referenceAllele": "G",
          "start": 17131418
        }
      ],
      "hgvs": [
        "NC_000017.10:g.17131419G>A",
        "CM000679.1:g.17131419G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17072144,
          "referenceAllele": "G",
          "start": 17072143
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17072144G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14084,
          "referenceAllele": "C",
          "start": 14083
        }
      ],
      "hgvs": [
        "NG_008001.2:g.14084C>T",
        "LRG_325:g.14084C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.9:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.33C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.33C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Cys11="
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Cys11="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.8:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389168.6:n.1373C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389169.9:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373821.5:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389171.4:n.537C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 99,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000417064.1:c.-27-100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410410.1:n.-27-100C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "hgvs": [
        "ENST00000427497.3:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394249.3:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "C",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000461699.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463970.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830283905",
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.5:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830262820",
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.5:c.33C>T",
        "LRG_325t1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523715.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522017.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523716.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522018.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1197,
          "referenceAllele": "C",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523717.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522019.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "C",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523720.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_934007.1:n.1373C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827719227",
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827719884",
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721313",
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830283905",
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "C",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.6:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830262820",
      "coordinates": [
        {
          "allele": "T",
          "end": 540,
          "referenceAllele": "C",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.3:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.3:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.3:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024305.2:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879794.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "referenceAllele": "C",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024308.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879797.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1727,
          "referenceAllele": "C",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_024450635.1:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306403.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_001752445.2:n.537C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830262820",
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.33C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.33C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Cys11="
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Cys11="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827719227",
      "coordinates": [
        {
          "allele": "T",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827719884",
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721313",
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830283905",
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.33C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Cys11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
    }
  ],
  "type": "nucleotide"
}