{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1705842",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.1577-1664C>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1306972",
        "active": true,
        "id": "COSM1306972"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=561907[alleleid]",
        "alleleId": 561907,
        "preferredName": "NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/582717",
        "RCV": [
          "RCV000706854",
          "RCV000711549",
          "RCV001271777",
          "RCV002534470"
        ],
        "variationId": 582717
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71776507-C-T",
        "id": "2-71776507-C-T",
        "variant": "2:71776507 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71776507C>T?assembly=hg19",
        "id": "chr2:g.71776507C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71549377C>T?assembly=hg38",
        "id": "chr2:g.71549377C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144931729",
        "rs": 144931729
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71776507-C-T?dataset=gnomad_r2_1",
        "id": "2-71776507-C-T",
        "variant": "2:71776507 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71549377-C-T?dataset=gnomad_r3",
        "id": "2-71549377-C-T",
        "variant": "2:71549377 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71549377-C-T?dataset=gnomad_r4",
        "id": "2-71549377-C-T",
        "variant": "2:71549377 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71549377,
          "referenceAllele": "C",
          "start": 71549376
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71549377C>T",
        "CM000664.2:g.71549377C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71776507,
          "referenceAllele": "C",
          "start": 71776506
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71776507C>T",
        "CM000664.1:g.71776507C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71630015,
          "referenceAllele": "C",
          "start": 71630014
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71630015C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100755,
          "referenceAllele": "C",
          "start": 100754
        }
      ],
      "hgvs": [
        "NG_008694.1:g.100755C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.1508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ser503Leu",
        "hgvsWellDefined": "ENSP00000258104.3:p.Ser503Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1508C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1508C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ser503Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ser503Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1720,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1720,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.1577-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:n.1577-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1577-1664C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1577-1664C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:n.1577-1664C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:n.1577-1664C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.1508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ser503Leu",
        "hgvsWellDefined": "ENSP00000258104.3:p.Ser503Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Ser504Leu",
        "hgvsWellDefined": "ENSP00000377678.2:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Ser504Leu",
        "hgvsWellDefined": "ENSP00000386512.1:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1850,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.1574-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:n.1574-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.1604C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Ser535Leu",
        "hgvsWellDefined": "ENSP00000386683.1:p.Ser535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1624,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.1484-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:n.1484-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1850,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.1574-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:n.1574-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1717,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1717,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.1577-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:n.1577-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1717,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1717,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.1577-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:n.1577-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1878,
          "referenceAllele": "C",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.1601C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Ser534Leu",
        "hgvsWellDefined": "ENSP00000407046.2:p.Ser534Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.1508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Ser503Leu",
        "hgvsWellDefined": "ENSP00000398305.2:p.Ser503Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825693480",
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ser504Leu",
        "hgvsWellDefined": "NP_001123927.1:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1856,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.1481-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:n.1481-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1856,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.1481-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:n.1481-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751768",
      "coordinates": [
        {
          "allele": "T",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.1508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ser503Leu",
        "hgvsWellDefined": "NP_001124450.1:p.Ser503Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754041",
      "coordinates": [
        {
          "allele": "T",
          "end": 1977,
          "referenceAllele": "C",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.1601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ser534Leu",
        "hgvsWellDefined": "NP_001124451.1:p.Ser534Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1949,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1949,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.1574-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:n.1574-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1949,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1949,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.1574-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:n.1574-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915973458",
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.1604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ser535Leu",
        "hgvsWellDefined": "NP_001124454.1:p.Ser535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762475",
      "coordinates": [
        {
          "allele": "T",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ser504Leu",
        "hgvsWellDefined": "NP_001124455.1:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1624,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.1484-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:n.1484-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1717,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1717,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.1577-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:n.1577-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1624,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.1484-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:n.1484-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1717,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1717,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.1577-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:n.1577-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891850833",
      "coordinates": [
        {
          "allele": "T",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.1508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ser503Leu",
        "hgvsWellDefined": "NP_003485.1:p.Ser503Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.1604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ser535Leu",
        "hgvsWellDefined": "XP_005264641.1:p.Ser535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2481,
          "referenceAllele": "C",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.1601C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ser534Leu",
        "hgvsWellDefined": "XP_005264642.1:p.Ser534Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.1604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ser535Leu",
        "hgvsWellDefined": "XP_005264641.1:p.Ser535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.1601C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ser534Leu",
        "hgvsWellDefined": "XP_005264642.1:p.Ser534Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.1762C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1720,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1720,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.1577-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:n.1577-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1577-1664C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1577-1664C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:n.1577-1664C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:n.1577-1664C>T"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825693480",
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ser504Leu",
        "hgvsWellDefined": "NP_001123927.1:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1918,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.1481-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:n.1481-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1918,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.1481-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:n.1481-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751768",
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.1508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ser503Leu",
        "hgvsWellDefined": "NP_001124450.1:p.Ser503Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754041",
      "coordinates": [
        {
          "allele": "T",
          "end": 2039,
          "referenceAllele": "C",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.1601C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ser534Leu",
        "hgvsWellDefined": "NP_001124451.1:p.Ser534Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2011,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 2011,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.1574-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:n.1574-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2011,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 2011,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.1574-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:n.1574-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915973458",
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.1604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ser535Leu",
        "hgvsWellDefined": "NP_001124454.1:p.Ser535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762475",
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ser504Leu",
        "hgvsWellDefined": "NP_001124455.1:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1627,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1627,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.1484-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:n.1484-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1720,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1720,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.1577-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:n.1577-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1627,
          "endIntronDirection": "-",
          "endIntronOffset": 1663,
          "referenceAllele": "C",
          "start": 1627,
          "startIntronDirection": "-",
          "startIntronOffset": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.1484-1664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:n.1484-1664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891850833",
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.1508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ser503Leu",
        "hgvsWellDefined": "NP_003485.1:p.Ser503Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1508C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1508C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ser503Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ser503Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}