{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350489456",
  "communityStandardTitle": [
    "NM_212482.4(FN1):c.3051G>C (p.Trp1017Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.216269314C>G?assembly=hg19",
        "id": "chr2:g.216269314C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215404591C>G?assembly=hg38",
        "id": "chr2:g.215404591C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 215404591,
          "referenceAllele": "C",
          "start": 215404590
        }
      ],
      "hgvs": [
        "NC_000002.12:g.215404591C>G",
        "CM000664.2:g.215404591C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 216269314,
          "referenceAllele": "C",
          "start": 216269313
        }
      ],
      "hgvs": [
        "NC_000002.11:g.216269314C>G",
        "CM000664.1:g.216269314C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 215977559,
          "referenceAllele": "C",
          "start": 215977558
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215977559C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36478,
          "referenceAllele": "G",
          "start": 36477
        }
      ],
      "hgvs": [
        "NG_012196.1:g.36478G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002279"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000354785.11:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346839.4:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000346839.4:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354785.11:c.3051G>C"
          },
          "RefSeq": {
            "hgvs": "NM_212482.4:c.3051G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346839.4:p.Trp1017Cys"
          },
          "RefSeq": {
            "hgvs": "NP_997647.2:p.Trp1017Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000323926.10:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323534.6:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000323534.6:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000336916.8:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338200.4:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000338200.4:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3421,
          "referenceAllele": "G",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000354785.8:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346839.4:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000346839.4:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000356005.8:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348285.4:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000348285.4:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000357867.8:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350534.4:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000350534.4:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000359671.5:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352696.1:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000352696.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3316,
          "referenceAllele": "G",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000421182.5:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394423.1:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000394423.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3316,
          "referenceAllele": "G",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000432072.6:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399538.2:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000399538.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3322,
          "referenceAllele": "G",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000443816.5:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415018.1:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000415018.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "ENST00000446046.5:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410422.1:p.Trp1017Cys",
        "hgvsWellDefined": "ENSP00000410422.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3319,
          "referenceAllele": "G",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001306129.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293058.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001293058.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3319,
          "referenceAllele": "G",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001306130.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293059.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001293059.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3319,
          "referenceAllele": "G",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001306131.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293060.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001293060.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3319,
          "referenceAllele": "G",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001306132.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293061.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001293061.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_002026.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002017.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_002017.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212474.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997639.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997639.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212476.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997641.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997641.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212478.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997643.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997643.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204750",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212482.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997647.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997647.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246397.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246454.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246454.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246398.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246455.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246455.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246399.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246456.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246456.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246401.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246458.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246458.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246402.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246459.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246459.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246403.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246460.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246460.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246404.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246461.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246461.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246405.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246462.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246462.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246406.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246463.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246463.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246407.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246464.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246464.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246408.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246465.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246465.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246409.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246466.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246466.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246410.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246467.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246467.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246411.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246468.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246468.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246412.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246469.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246469.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246414.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246471.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246471.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_005246416.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246473.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_005246473.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828169121",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365517.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352446.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352446.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828170910",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365518.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352447.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352447.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828172858",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365519.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352448.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352448.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828174814",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365520.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352449.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352449.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524137"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828176279",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365521.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352450.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352450.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828177212",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365522.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352451.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352451.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524139"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828178072",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365523.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352452.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352452.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828178900",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365524.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352453.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352453.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_002026.3:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002017.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_002017.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212474.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997639.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997639.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS527057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212476.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997641.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997641.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS527058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212478.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997643.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997643.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS527059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204750",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212482.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997647.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997647.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS527061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_017003692.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859181.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_016859181.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_017003695.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859184.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_016859184.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_024452769.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308537.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_024308537.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3416,
          "referenceAllele": "G",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "XM_024452770.1:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308538.1:p.Trp1017Cys",
        "hgvsWellDefined": "XP_024308538.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586161"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204750",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212482.3:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997647.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997647.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826910961",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001306129.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293058.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001293058.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826911856",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001306130.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293059.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001293059.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826912693",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001306131.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293060.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001293060.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826913517",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001306132.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293061.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001293061.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828169121",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365517.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352446.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352446.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720917"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828170910",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365518.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352447.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352447.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828172858",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365519.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352448.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352448.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720919"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828174814",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365520.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352449.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352449.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720920"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828176279",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365521.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352450.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352450.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828177212",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365522.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352451.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352451.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720922"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828178072",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365523.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352452.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352452.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828178900",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_001365524.2:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352453.1:p.Trp1017Cys",
        "hgvsWellDefined": "NP_001352453.1:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829347362",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_002026.4:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002017.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_002017.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830518839",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212474.3:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997639.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997639.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830519828",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212476.3:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997641.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997641.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830520870",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212478.3:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997643.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997643.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573102261",
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003778",
      "geneNCBI_id": 2335,
      "geneSymbol": "FN1",
      "hgvs": [
        "NM_212482.4:c.3051G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_997647.2:p.Trp1017Cys",
        "hgvsWellDefined": "NP_997647.2:p.Trp1017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354785.11:c.3051G>C"
          },
          "RefSeq": {
            "hgvs": "NM_212482.4:c.3051G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346839.4:p.Trp1017Cys"
          },
          "RefSeq": {
            "hgvs": "NP_997647.2:p.Trp1017Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}