{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1705916",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.1737G>A (p.Glu579=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=518526[alleleid]",
        "alleleId": 518526,
        "preferredName": "NM_001130987.2(DYSF):c.1737G>A (p.Glu579=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/538652",
        "RCV": [
          "RCV000735135",
          "RCV001079983"
        ],
        "variationId": 538652
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71778781-G-A",
        "id": "2-71778781-G-A",
        "variant": "2:71778781 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71778781G>A?assembly=hg19",
        "id": "chr2:g.71778781G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71551651G>A?assembly=hg38",
        "id": "chr2:g.71551651G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370872013",
        "rs": 370872013
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71778781-G-A?dataset=gnomad_r2_1",
        "id": "2-71778781-G-A",
        "variant": "2:71778781 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71551651-G-A?dataset=gnomad_r3",
        "id": "2-71551651-G-A",
        "variant": "2:71551651 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71551651-G-A?dataset=gnomad_r4",
        "id": "2-71551651-G-A",
        "variant": "2:71551651 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71551651,
          "referenceAllele": "G",
          "start": 71551650
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71551651G>A",
        "CM000664.2:g.71551651G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71778781,
          "referenceAllele": "G",
          "start": 71778780
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71778781G>A",
        "CM000664.1:g.71778781G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71632289,
          "referenceAllele": "G",
          "start": 71632288
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71632289G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 103029,
          "referenceAllele": "G",
          "start": 103028
        }
      ],
      "hgvs": [
        "NG_008694.1:g.103029G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.1683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Glu561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1683G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1683G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu561="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu561="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.1737G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Glu579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1737G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1737G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Glu579="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Glu579="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.1683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Glu561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.1686G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.1686G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.1734G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Glu578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1920,
          "referenceAllele": "G",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.1779G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Glu593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1785,
          "referenceAllele": "G",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.1644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Glu548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.1734G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Glu578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.1737G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Glu579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.1737G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Glu579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2053,
          "referenceAllele": "G",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.1776G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Glu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.1683G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Glu561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825693544",
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.1686G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747285",
      "coordinates": [
        {
          "allele": "A",
          "end": 2017,
          "referenceAllele": "G",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.1641G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Glu547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825749546",
      "coordinates": [
        {
          "allele": "A",
          "end": 2017,
          "referenceAllele": "G",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.1641G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Glu547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751817",
      "coordinates": [
        {
          "allele": "A",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.1683G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Glu561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754090",
      "coordinates": [
        {
          "allele": "A",
          "end": 2152,
          "referenceAllele": "G",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.1776G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Glu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756352",
      "coordinates": [
        {
          "allele": "A",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.1734G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Glu578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825758617",
      "coordinates": [
        {
          "allele": "A",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.1734G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Glu578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825760837",
      "coordinates": [
        {
          "allele": "A",
          "end": 1920,
          "referenceAllele": "G",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.1779G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762524",
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.1686G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825764748",
      "coordinates": [
        {
          "allele": "A",
          "end": 1785,
          "referenceAllele": "G",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.1644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766989",
      "coordinates": [
        {
          "allele": "A",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.1737G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769221",
      "coordinates": [
        {
          "allele": "A",
          "end": 1785,
          "referenceAllele": "G",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.1644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771127",
      "coordinates": [
        {
          "allele": "A",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.1737G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Glu579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829466508",
      "coordinates": [
        {
          "allele": "A",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.1683G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.1779G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Glu593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2656,
          "referenceAllele": "G",
          "start": 2655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.1776G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Glu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1935,
          "referenceAllele": "G",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.1779G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Glu593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2621,
          "referenceAllele": "G",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.1776G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Glu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1937,
          "referenceAllele": "G",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.1937G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771127",
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.1737G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Glu579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1737G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1737G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Glu579="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Glu579="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825693544",
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "referenceAllele": "G",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.1686G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747285",
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.1641G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Glu547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825749546",
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.1641G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Glu547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751817",
      "coordinates": [
        {
          "allele": "A",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.1683G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Glu561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754090",
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.1776G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Glu592="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756352",
      "coordinates": [
        {
          "allele": "A",
          "end": 2172,
          "referenceAllele": "G",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.1734G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Glu578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825758617",
      "coordinates": [
        {
          "allele": "A",
          "end": 2172,
          "referenceAllele": "G",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.1734G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Glu578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825760837",
      "coordinates": [
        {
          "allele": "A",
          "end": 1923,
          "referenceAllele": "G",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.1779G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762524",
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "referenceAllele": "G",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.1686G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825764748",
      "coordinates": [
        {
          "allele": "A",
          "end": 1788,
          "referenceAllele": "G",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.1644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766989",
      "coordinates": [
        {
          "allele": "A",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.1737G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769221",
      "coordinates": [
        {
          "allele": "A",
          "end": 1788,
          "referenceAllele": "G",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.1644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829466508",
      "coordinates": [
        {
          "allele": "A",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.1683G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu561="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1683G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1683G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu561="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu561="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}