{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1260152214",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.5614G= (p.Glu1872=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201592500",
        "rs": 201592500
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71669179,
          "referenceAllele": "G",
          "start": 71669178
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71669179G=",
        "CM000664.2:g.71669179G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71896309,
          "referenceAllele": "G",
          "start": 71896308
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71896309G=",
        "CM000664.1:g.71896309G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71749817,
          "referenceAllele": "G",
          "start": 71749816
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71749817G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220557,
          "referenceAllele": "G",
          "start": 220556
        }
      ],
      "hgvs": [
        "NG_008694.1:g.220557G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3028,
          "referenceAllele": "G",
          "start": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.3028G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Glu1010="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2436,
          "referenceAllele": "G",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.2245G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Glu749="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.2353G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Glu785="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5935,
          "referenceAllele": "G",
          "start": 5934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.5497G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Glu1833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5497G="
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5497G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu1833="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu1833="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5758,
          "referenceAllele": "G",
          "start": 5757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.5614G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Glu1872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5614G="
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5614G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Glu1872="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Glu1872="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5774,
          "referenceAllele": "G",
          "start": 5773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.5497G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Glu1833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5641,
          "referenceAllele": "G",
          "start": 5640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.5500G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Glu1834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5704,
          "referenceAllele": "G",
          "start": 5703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.5563G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Glu1855="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5888,
          "referenceAllele": "G",
          "start": 5887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.5611G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Glu1871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5734,
          "referenceAllele": "G",
          "start": 5733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.5593G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Glu1865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5662,
          "referenceAllele": "G",
          "start": 5661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5825,
          "referenceAllele": "G",
          "start": 5824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.5548G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Glu1850="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5755,
          "referenceAllele": "G",
          "start": 5754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.5614G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Glu1872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5692,
          "referenceAllele": "G",
          "start": 5691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.5551G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Glu1851="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5867,
          "referenceAllele": "G",
          "start": 5866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.5590G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Glu1864="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5837,
          "referenceAllele": "G",
          "start": 5836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.5560G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Glu1854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2382,
          "referenceAllele": "G",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.2382G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5641,
          "referenceAllele": "G",
          "start": 5640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.5500G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Glu1834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5831,
          "referenceAllele": "G",
          "start": 5830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.5455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Glu1819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5894,
          "referenceAllele": "G",
          "start": 5893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.5518G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Glu1840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5936,
          "referenceAllele": "G",
          "start": 5935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.5560G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Glu1854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5966,
          "referenceAllele": "G",
          "start": 5965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.5590G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Glu1864="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5924,
          "referenceAllele": "G",
          "start": 5923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.5548G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Glu1850="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5987,
          "referenceAllele": "G",
          "start": 5986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.5611G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Glu1871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5734,
          "referenceAllele": "G",
          "start": 5733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.5593G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu1865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5704,
          "referenceAllele": "G",
          "start": 5703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.5563G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Glu1855="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5662,
          "referenceAllele": "G",
          "start": 5661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5692,
          "referenceAllele": "G",
          "start": 5691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.5551G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu1851="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5599,
          "referenceAllele": "G",
          "start": 5598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.5458G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu1820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5755,
          "referenceAllele": "G",
          "start": 5754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.5614G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Glu1872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066602738",
      "coordinates": [
        {
          "allele": "G",
          "end": 5873,
          "referenceAllele": "G",
          "start": 5872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.5497G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu1833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5796,
          "referenceAllele": "G",
          "start": 5795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.5656G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Glu1886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6533,
          "referenceAllele": "G",
          "start": 6532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.5653G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Glu1885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5812,
          "referenceAllele": "G",
          "start": 5811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.5656G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Glu1886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6498,
          "referenceAllele": "G",
          "start": 6497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.5653G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Glu1885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5758,
          "referenceAllele": "G",
          "start": 5757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.5614G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Glu1872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5614G="
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5614G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Glu1872="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Glu1872="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5644,
          "referenceAllele": "G",
          "start": 5643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.5500G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Glu1834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5893,
          "referenceAllele": "G",
          "start": 5892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.5455G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Glu1819="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5956,
          "referenceAllele": "G",
          "start": 5955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.5518G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Glu1840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5998,
          "referenceAllele": "G",
          "start": 5997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.5560G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Glu1854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6028,
          "referenceAllele": "G",
          "start": 6027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.5590G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Glu1864="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5986,
          "referenceAllele": "G",
          "start": 5985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.5548G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Glu1850="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6049,
          "referenceAllele": "G",
          "start": 6048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.5611G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Glu1871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5737,
          "referenceAllele": "G",
          "start": 5736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.5593G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu1865="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5707,
          "referenceAllele": "G",
          "start": 5706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.5563G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Glu1855="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5665,
          "referenceAllele": "G",
          "start": 5664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.5521G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu1841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5695,
          "referenceAllele": "G",
          "start": 5694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.5551G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu1851="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5602,
          "referenceAllele": "G",
          "start": 5601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.5458G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu1820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066602738",
      "coordinates": [
        {
          "allele": "G",
          "end": 5935,
          "referenceAllele": "G",
          "start": 5934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.5497G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu1833="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5497G="
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5497G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu1833="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu1833="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}