{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347216767",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=542049[alleleid]",
        "alleleId": 542049,
        "preferredName": "NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/554057",
        "RCV": [
          "RCV000669615",
          "RCV002531232"
        ],
        "variationId": 554057
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71766337C>A?assembly=hg19",
        "id": "chr2:g.71766337C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71539207C>A?assembly=hg38",
        "id": "chr2:g.71539207C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139258703",
        "rs": 139258703
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71539207,
          "referenceAllele": "C",
          "start": 71539206
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71539207C>A",
        "CM000664.2:g.71539207C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71766337,
          "referenceAllele": "C",
          "start": 71766336
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71766337C>A",
        "CM000664.1:g.71766337C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71619845,
          "referenceAllele": "C",
          "start": 71619844
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71619845C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90585,
          "referenceAllele": "C",
          "start": 90584
        }
      ],
      "hgvs": [
        "NG_008694.1:g.90585C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1448C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1448C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ser483Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ser483Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1544C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1544C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ser515Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ser515Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2421,
          "referenceAllele": "C",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.1702C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1544C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1544C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ser515Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ser515Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.1541C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ser514Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.1544C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ser515Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.1451C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ser484Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.1448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ser483Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1448C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1448C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ser483Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ser483Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}