{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8416522",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=242613[alleleid]",
        "alleleId": 242613,
        "preferredName": "NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/241932",
        "RCV": [
          "RCV000229497",
          "RCV000380278",
          "RCV001027381",
          "RCV003151763",
          "RCV002500821"
        ],
        "variationId": 241932
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-17131370-G-A",
        "id": "17-17131370-G-A",
        "variant": "17:17131370 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17131370G>A?assembly=hg19",
        "id": "chr17:g.17131370G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17228056G>A?assembly=hg38",
        "id": "chr17:g.17228056G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749758787",
        "rs": 749758787
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17131370-G-A?dataset=gnomad_r2_1",
        "id": "17-17131370-G-A",
        "variant": "17:17131370 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17228056-G-A?dataset=gnomad_r3",
        "id": "17-17228056-G-A",
        "variant": "17:17228056 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17228056-G-A?dataset=gnomad_r4",
        "id": "17-17228056-G-A",
        "variant": "17:17228056 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17228056,
          "referenceAllele": "G",
          "start": 17228055
        }
      ],
      "hgvs": [
        "NC_000017.11:g.17228056G>A",
        "CM000679.2:g.17228056G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17131370,
          "referenceAllele": "G",
          "start": 17131369
        }
      ],
      "hgvs": [
        "NC_000017.10:g.17131370G>A",
        "CM000679.1:g.17131370G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17072095,
          "referenceAllele": "G",
          "start": 17072094
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17072095G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14133,
          "referenceAllele": "C",
          "start": 14132
        }
      ],
      "hgvs": [
        "NG_008001.2:g.14133C>T",
        "LRG_325:g.14133C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.9:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Pro28Ser",
        "hgvsWellDefined": "ENSP00000285071.4:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.82C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.82C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Pro28Ser"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Pro28Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.8:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Pro28Ser",
        "hgvsWellDefined": "ENSP00000285071.4:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389168.6:n.1422C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389169.9:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373821.5:p.Pro28Ser",
        "hgvsWellDefined": "ENSP00000373821.5:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389171.4:n.586C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS274165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 50,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000417064.1:c.-27-51C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410410.1:n.-27-51C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "hgvs": [
        "ENST00000427497.3:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394249.3:p.Pro28Ser",
        "hgvsWellDefined": "ENSP00000394249.3:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000461699.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463970.1:p.Pro28Ser",
        "hgvsWellDefined": "ENSP00000463970.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830283959",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.5:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_653207.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426359",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.5:c.82C>T",
        "LRG_325t1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Pro28Ser",
        "hgvsWellDefined": "NP_659434.2:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522016.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523715.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522017.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522017.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523716.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522018.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522018.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523717.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522019.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522019.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "referenceAllele": "C",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522020.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522021.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523720.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522022.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "C",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522023.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_934007.1:n.1422C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827719272",
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_001340158.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827719932",
      "coordinates": [
        {
          "allele": "T",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_001340159.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721364",
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
          "referenceAllele": "C",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_001340160.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830283959",
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.6:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_653207.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426359",
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Pro28Ser",
        "hgvsWellDefined": "NP_659434.2:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.3:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522016.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.3:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522020.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522021.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.3:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_011522023.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024305.2:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879794.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_016879794.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024308.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879797.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_016879797.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_016879798.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_024450635.1:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306403.1:p.Pro28Ser",
        "hgvsWellDefined": "XP_024306403.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_001752445.2:n.586C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426359",
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Pro28Ser",
        "hgvsWellDefined": "NP_659434.2:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.82C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.82C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Pro28Ser"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Pro28Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827719272",
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_001340158.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827719932",
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_001340159.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721364",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_001340160.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830283959",
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.82C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Pro28Ser",
        "hgvsWellDefined": "NP_653207.1:p.Pro28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
    }
  ],
  "type": "nucleotide"
}