{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3955640",
  "communityStandardTitle": [
    "NM_014845.6(FIG4):c.33G>C (p.Ser11=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=368638[alleleid]",
        "alleleId": 368638,
        "preferredName": "NM_014845.6(FIG4):c.33G>C (p.Ser11=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/389842",
        "RCV": [
          "RCV000433196",
          "RCV001418759",
          "RCV001158140",
          "RCV001158141",
          "RCV001173276",
          "RCV003970216",
          "RCV002451035"
        ],
        "variationId": 389842
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-110012671-G-C",
        "id": "6-110012671-G-C",
        "variant": "6:110012671 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.110012671G>C?assembly=hg19",
        "id": "chr6:g.110012671G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.109691468G>C?assembly=hg38",
        "id": "chr6:g.109691468G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/527523781",
        "rs": 527523781
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-110012671-G-C?dataset=gnomad_r2_1",
        "id": "6-110012671-G-C",
        "variant": "6:110012671 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-109691468-G-C?dataset=gnomad_r3",
        "id": "6-109691468-G-C",
        "variant": "6:109691468 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-109691468-G-C?dataset=gnomad_r4",
        "id": "6-109691468-G-C",
        "variant": "6:109691468 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 109691468,
          "referenceAllele": "G",
          "start": 109691467
        }
      ],
      "hgvs": [
        "NC_000006.12:g.109691468G>C",
        "CM000668.2:g.109691468G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 110012671,
          "referenceAllele": "G",
          "start": 110012670
        }
      ],
      "hgvs": [
        "NC_000006.11:g.110012671G>C",
        "CM000668.1:g.110012671G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 110119364,
          "referenceAllele": "G",
          "start": 110119363
        }
      ],
      "hgvs": [
        "NC_000006.10:g.110119364G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5248,
          "referenceAllele": "G",
          "start": 5247
        }
      ],
      "hgvs": [
        "NG_007977.1:g.5248G>C",
        "LRG_241:g.5248G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000745"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000230124.8:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230124.4:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230124.8:c.33G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014845.6:c.33G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230124.4:p.Ser11="
          },
          "RefSeq": {
            "hgvs": "NP_055660.1:p.Ser11="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 174,
          "referenceAllele": "G",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000368941.2:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357937.2:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000415980.2:c.-257G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405660.2:n.-257G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000454215.6:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412156.2:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674532.1:n.203G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674557.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501608.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674569.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502769.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674571.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501633.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674575.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502276.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674614.1:n.157G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674641.1:c.-90G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501609.1:n.-90G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674644.1:c.-288G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502201.1:n.-288G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674649.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501669.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674657.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502314.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "referenceAllele": "G",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674744.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501661.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674778.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502742.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674783.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502755.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4,
          "referenceAllele": "G",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674830.1:n.4G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674884.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502668.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674930.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502657.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674933.1:c.-197G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502376.1:n.-197G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000674956.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501904.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675004.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501868.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "referenceAllele": "G",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675009.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502098.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675096.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502116.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675115.1:n.166G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "G",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675122.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501810.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675153.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501682.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675284.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502758.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675311.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501961.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675426.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501819.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675523.1:c.-197G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502384.1:n.-197G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675552.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502197.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675606.1:c.-275G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501583.1:n.-275G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675681.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502705.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675714.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502561.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675726.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502452.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675772.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501678.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675831.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502382.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 554,
          "referenceAllele": "G",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675844.1:c.-166+554G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502353.1:n.-166+554G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675847.1:n.157G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675887.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502123.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675973.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502407.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675991.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502162.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52,
          "referenceAllele": "G",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000675994.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502419.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676021.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502746.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676037.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502181.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676136.1:n.173G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676435.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502614.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000676442.1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502595.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "ENST00000230124.7:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000230124.3:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829776741",
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "NM_014845.5:c.33G>C",
        "LRG_241t1:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055660.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_017011591.2:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867080.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_017011592.1:c.-360G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867081.1:n.-360G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "XM_017011593.2:c.-668G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867082.1:n.-668G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829776741",
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "NM_014845.6:c.33G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055660.1:p.Ser11="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000230124.8:c.33G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014845.6:c.33G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000230124.4:p.Ser11="
          },
          "RefSeq": {
            "hgvs": "NP_055660.1:p.Ser11="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}