{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8416335",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5555002",
        "active": true,
        "id": "COSM5555002"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5555003",
        "active": true,
        "id": "COSM5555003"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=813044[alleleid]",
        "alleleId": 813044,
        "preferredName": "NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/826792",
        "RCV": [
          "RCV001025960",
          "RCV001209824",
          "RCV003321779"
        ],
        "variationId": 826792
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-17125891-C-T",
        "id": "17-17125891-C-T",
        "variant": "17:17125891 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17125891C>T?assembly=hg19",
        "id": "chr17:g.17125891C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17222577C>T?assembly=hg38",
        "id": "chr17:g.17222577C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200693409",
        "rs": 200693409
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17125891-C-T?dataset=gnomad_r2_1",
        "id": "17-17125891-C-T",
        "variant": "17:17125891 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17222577-C-T?dataset=gnomad_r3",
        "id": "17-17222577-C-T",
        "variant": "17:17222577 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17222577-C-T?dataset=gnomad_r4",
        "id": "17-17222577-C-T",
        "variant": "17:17222577 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 17222577,
          "referenceAllele": "C",
          "start": 17222576
        }
      ],
      "hgvs": [
        "NC_000017.11:g.17222577C>T",
        "CM000679.2:g.17222577C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 17125891,
          "referenceAllele": "C",
          "start": 17125890
        }
      ],
      "hgvs": [
        "NC_000017.10:g.17125891C>T",
        "CM000679.1:g.17125891C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 17066616,
          "referenceAllele": "C",
          "start": 17066615
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17066616C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19612,
          "referenceAllele": "G",
          "start": 19611
        }
      ],
      "hgvs": [
        "NG_008001.2:g.19612G>A",
        "LRG_325:g.19612G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.9:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Gly235Ser",
        "hgvsWellDefined": "ENSP00000285071.4:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.703G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.703G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Gly235Ser"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gly235Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.8:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:p.Gly235Ser",
        "hgvsWellDefined": "ENSP00000285071.4:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000389169.9:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373821.5:p.Gly235Ser",
        "hgvsWellDefined": "ENSP00000373821.5:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "endIntronDirection": "-",
          "endIntronOffset": 3522,
          "referenceAllele": "G",
          "start": 649,
          "startIntronDirection": "-",
          "startIntronOffset": 3523
        }
      ],
      "hgvs": [
        "ENST00000427497.3:c.149-3523G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394249.3:n.149-3523G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000466317.1:n.546G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 669,
          "referenceAllele": "G",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000480316.1:n.669G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830284486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.5:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly235Ser",
        "hgvsWellDefined": "NP_653207.1:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830263673",
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.5:c.703G>A",
        "LRG_325t1:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly235Ser",
        "hgvsWellDefined": "NP_659434.2:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522016.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2005,
          "referenceAllele": "G",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523715.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522017.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522017.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1636,
          "referenceAllele": "G",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523716.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522018.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522018.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1921,
          "referenceAllele": "G",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523717.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522019.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522019.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "referenceAllele": "G",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522020.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522021.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1821,
          "referenceAllele": "G",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523720.1:c.481G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:p.Gly161Ser",
        "hgvsWellDefined": "XP_011522022.1:p.Gly161Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522023.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_934007.1:n.2097G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035814",
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Gly253Ser",
        "hgvsWellDefined": "NP_001340158.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827720461",
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "referenceAllele": "G",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.1:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Gly235Ser",
        "hgvsWellDefined": "NP_001340159.1:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721891",
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gly235Ser",
        "hgvsWellDefined": "NP_001340160.1:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830284486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.6:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly235Ser",
        "hgvsWellDefined": "NP_653207.1:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830263673",
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly235Ser",
        "hgvsWellDefined": "NP_659434.2:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.3:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522016.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.3:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522020.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522021.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.3:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_011522023.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "G",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024305.2:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879794.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_016879794.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024308.1:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879797.1:p.Gly235Ser",
        "hgvsWellDefined": "XP_016879797.1:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "referenceAllele": "G",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.481G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:p.Gly161Ser",
        "hgvsWellDefined": "XP_016879798.1:p.Gly161Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2451,
          "referenceAllele": "G",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_024450635.1:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306403.1:p.Gly253Ser",
        "hgvsWellDefined": "XP_024306403.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XR_001752445.2:n.1261G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830263673",
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Gly235Ser",
        "hgvsWellDefined": "NP_659434.2:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.703G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.703G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:p.Gly235Ser"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gly235Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035814",
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.757G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Gly253Ser",
        "hgvsWellDefined": "NP_001340158.1:p.Gly253Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827720461",
      "coordinates": [
        {
          "allele": "A",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:p.Gly235Ser",
        "hgvsWellDefined": "NP_001340159.1:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827721891",
      "coordinates": [
        {
          "allele": "A",
          "end": 1386,
          "referenceAllele": "G",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:p.Gly235Ser",
        "hgvsWellDefined": "NP_001340160.1:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830284486",
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.703G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653207.1:p.Gly235Ser",
        "hgvsWellDefined": "NP_653207.1:p.Gly235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
    }
  ],
  "type": "nucleotide"
}