{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA245812",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194727[alleleid]",
        "alleleId": 194727,
        "preferredName": "NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197566",
        "RCV": [
          "RCV000178627",
          "RCV003165373",
          "RCV001826908",
          "RCV000813699"
        ],
        "variationId": 197566
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71894577-C-G",
        "id": "2-71894577-C-G",
        "variant": "2:71894577 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71894577C>G?assembly=hg19",
        "id": "chr2:g.71894577C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71667447C>G?assembly=hg38",
        "id": "chr2:g.71667447C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370866476",
        "rs": 370866476
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71894577-C-G?dataset=gnomad_r2_1",
        "id": "2-71894577-C-G",
        "variant": "2:71894577 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71667447-C-G?dataset=gnomad_r3",
        "id": "2-71667447-C-G",
        "variant": "2:71667447 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71667447-C-G?dataset=gnomad_r4",
        "id": "2-71667447-C-G",
        "variant": "2:71667447 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71667447,
          "referenceAllele": "C",
          "start": 71667446
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71667447C>G",
        "CM000664.2:g.71667447C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71894577,
          "referenceAllele": "C",
          "start": 71894576
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71894577C>G",
        "CM000664.1:g.71894577C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71748085,
          "referenceAllele": "C",
          "start": 71748084
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71748085C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 218825,
          "referenceAllele": "C",
          "start": 218824
        }
      ],
      "hgvs": [
        "NG_008694.1:g.218825C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2803,
          "referenceAllele": "C",
          "start": 2802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.2803C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Gln935Glu",
        "hgvsWellDefined": "ENSP00000513536.1:p.Gln935Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2211,
          "referenceAllele": "C",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.2020C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Gln674Glu",
        "hgvsWellDefined": "ENSP00000513537.1:p.Gln674Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.2128C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Gln710Glu",
        "hgvsWellDefined": "ENSP00000513538.1:p.Gln710Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5710,
          "referenceAllele": "C",
          "start": 5709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.5272C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Gln1758Glu",
        "hgvsWellDefined": "ENSP00000258104.3:p.Gln1758Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5272C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5272C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Gln1758Glu"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Gln1758Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5533,
          "referenceAllele": "C",
          "start": 5532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.5389C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Gln1797Glu",
        "hgvsWellDefined": "ENSP00000386881.3:p.Gln1797Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5389C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5389C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Gln1797Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Gln1797Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5549,
          "referenceAllele": "C",
          "start": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.5272C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Gln1758Glu",
        "hgvsWellDefined": "ENSP00000258104.3:p.Gln1758Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5416,
          "referenceAllele": "C",
          "start": 5415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.5275C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Gln1759Glu",
        "hgvsWellDefined": "ENSP00000377678.2:p.Gln1759Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5479,
          "referenceAllele": "C",
          "start": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.5338C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Gln1780Glu",
        "hgvsWellDefined": "ENSP00000386512.1:p.Gln1780Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5663,
          "referenceAllele": "C",
          "start": 5662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.5386C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Gln1796Glu",
        "hgvsWellDefined": "ENSP00000386547.3:p.Gln1796Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5509,
          "referenceAllele": "C",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.5368C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Gln1790Glu",
        "hgvsWellDefined": "ENSP00000386683.1:p.Gln1790Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5437,
          "referenceAllele": "C",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.5296C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Gln1766Glu",
        "hgvsWellDefined": "ENSP00000386285.1:p.Gln1766Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5600,
          "referenceAllele": "C",
          "start": 5599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.5323C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Gln1775Glu",
        "hgvsWellDefined": "ENSP00000387137.1:p.Gln1775Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5530,
          "referenceAllele": "C",
          "start": 5529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.5389C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Gln1797Glu",
        "hgvsWellDefined": "ENSP00000386881.3:p.Gln1797Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5467,
          "referenceAllele": "C",
          "start": 5466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.5326C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Gln1776Glu",
        "hgvsWellDefined": "ENSP00000386617.1:p.Gln1776Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5642,
          "referenceAllele": "C",
          "start": 5641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.5365C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Gln1789Glu",
        "hgvsWellDefined": "ENSP00000407046.2:p.Gln1789Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5612,
          "referenceAllele": "C",
          "start": 5611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.5335C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Gln1779Glu",
        "hgvsWellDefined": "ENSP00000398305.2:p.Gln1779Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2157,
          "referenceAllele": "C",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.2157C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695496",
      "coordinates": [
        {
          "allele": "G",
          "end": 5416,
          "referenceAllele": "C",
          "start": 5415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.5275C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Gln1759Glu",
        "hgvsWellDefined": "NP_001123927.1:p.Gln1759Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748609",
      "coordinates": [
        {
          "allele": "G",
          "end": 5606,
          "referenceAllele": "C",
          "start": 5605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.5230C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Gln1744Glu",
        "hgvsWellDefined": "NP_001124448.1:p.Gln1744Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750873",
      "coordinates": [
        {
          "allele": "G",
          "end": 5669,
          "referenceAllele": "C",
          "start": 5668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.5293C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Gln1765Glu",
        "hgvsWellDefined": "NP_001124449.1:p.Gln1765Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753138",
      "coordinates": [
        {
          "allele": "G",
          "end": 5711,
          "referenceAllele": "C",
          "start": 5710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.5335C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Gln1779Glu",
        "hgvsWellDefined": "NP_001124450.1:p.Gln1779Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755410",
      "coordinates": [
        {
          "allele": "G",
          "end": 5741,
          "referenceAllele": "C",
          "start": 5740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.5365C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Gln1789Glu",
        "hgvsWellDefined": "NP_001124451.1:p.Gln1789Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757676",
      "coordinates": [
        {
          "allele": "G",
          "end": 5699,
          "referenceAllele": "C",
          "start": 5698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.5323C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Gln1775Glu",
        "hgvsWellDefined": "NP_001124452.1:p.Gln1775Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759945",
      "coordinates": [
        {
          "allele": "G",
          "end": 5762,
          "referenceAllele": "C",
          "start": 5761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.5386C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Gln1796Glu",
        "hgvsWellDefined": "NP_001124453.1:p.Gln1796Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761603",
      "coordinates": [
        {
          "allele": "G",
          "end": 5509,
          "referenceAllele": "C",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.5368C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Gln1790Glu",
        "hgvsWellDefined": "NP_001124454.1:p.Gln1790Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763840",
      "coordinates": [
        {
          "allele": "G",
          "end": 5479,
          "referenceAllele": "C",
          "start": 5478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.5338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Gln1780Glu",
        "hgvsWellDefined": "NP_001124455.1:p.Gln1780Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766076",
      "coordinates": [
        {
          "allele": "G",
          "end": 5437,
          "referenceAllele": "C",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.5296C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Gln1766Glu",
        "hgvsWellDefined": "NP_001124456.1:p.Gln1766Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768313",
      "coordinates": [
        {
          "allele": "G",
          "end": 5467,
          "referenceAllele": "C",
          "start": 5466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.5326C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Gln1776Glu",
        "hgvsWellDefined": "NP_001124457.1:p.Gln1776Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770532",
      "coordinates": [
        {
          "allele": "G",
          "end": 5374,
          "referenceAllele": "C",
          "start": 5373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.5233C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Gln1745Glu",
        "hgvsWellDefined": "NP_001124458.1:p.Gln1745Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477801",
      "coordinates": [
        {
          "allele": "G",
          "end": 5530,
          "referenceAllele": "C",
          "start": 5529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.5389C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Gln1797Glu",
        "hgvsWellDefined": "NP_001124459.1:p.Gln1797Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA245813",
      "coordinates": [
        {
          "allele": "G",
          "end": 5648,
          "referenceAllele": "C",
          "start": 5647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.5272C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Gln1758Glu",
        "hgvsWellDefined": "NP_003485.1:p.Gln1758Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5571,
          "referenceAllele": "C",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.5431C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Gln1811Glu",
        "hgvsWellDefined": "XP_005264641.1:p.Gln1811Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6308,
          "referenceAllele": "C",
          "start": 6307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.5428C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Gln1810Glu",
        "hgvsWellDefined": "XP_005264642.1:p.Gln1810Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5587,
          "referenceAllele": "C",
          "start": 5586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.5431C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Gln1811Glu",
        "hgvsWellDefined": "XP_005264641.1:p.Gln1811Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6273,
          "referenceAllele": "C",
          "start": 6272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.5428C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Gln1810Glu",
        "hgvsWellDefined": "XP_005264642.1:p.Gln1810Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477801",
      "coordinates": [
        {
          "allele": "G",
          "end": 5533,
          "referenceAllele": "C",
          "start": 5532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.5389C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Gln1797Glu",
        "hgvsWellDefined": "NP_001124459.1:p.Gln1797Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5389C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5389C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Gln1797Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Gln1797Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695496",
      "coordinates": [
        {
          "allele": "G",
          "end": 5419,
          "referenceAllele": "C",
          "start": 5418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.5275C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Gln1759Glu",
        "hgvsWellDefined": "NP_001123927.1:p.Gln1759Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748609",
      "coordinates": [
        {
          "allele": "G",
          "end": 5668,
          "referenceAllele": "C",
          "start": 5667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.5230C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Gln1744Glu",
        "hgvsWellDefined": "NP_001124448.1:p.Gln1744Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750873",
      "coordinates": [
        {
          "allele": "G",
          "end": 5731,
          "referenceAllele": "C",
          "start": 5730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.5293C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Gln1765Glu",
        "hgvsWellDefined": "NP_001124449.1:p.Gln1765Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753138",
      "coordinates": [
        {
          "allele": "G",
          "end": 5773,
          "referenceAllele": "C",
          "start": 5772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.5335C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Gln1779Glu",
        "hgvsWellDefined": "NP_001124450.1:p.Gln1779Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755410",
      "coordinates": [
        {
          "allele": "G",
          "end": 5803,
          "referenceAllele": "C",
          "start": 5802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.5365C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Gln1789Glu",
        "hgvsWellDefined": "NP_001124451.1:p.Gln1789Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757676",
      "coordinates": [
        {
          "allele": "G",
          "end": 5761,
          "referenceAllele": "C",
          "start": 5760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.5323C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Gln1775Glu",
        "hgvsWellDefined": "NP_001124452.1:p.Gln1775Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759945",
      "coordinates": [
        {
          "allele": "G",
          "end": 5824,
          "referenceAllele": "C",
          "start": 5823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.5386C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Gln1796Glu",
        "hgvsWellDefined": "NP_001124453.1:p.Gln1796Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761603",
      "coordinates": [
        {
          "allele": "G",
          "end": 5512,
          "referenceAllele": "C",
          "start": 5511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.5368C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Gln1790Glu",
        "hgvsWellDefined": "NP_001124454.1:p.Gln1790Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763840",
      "coordinates": [
        {
          "allele": "G",
          "end": 5482,
          "referenceAllele": "C",
          "start": 5481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.5338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Gln1780Glu",
        "hgvsWellDefined": "NP_001124455.1:p.Gln1780Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766076",
      "coordinates": [
        {
          "allele": "G",
          "end": 5440,
          "referenceAllele": "C",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.5296C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Gln1766Glu",
        "hgvsWellDefined": "NP_001124456.1:p.Gln1766Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768313",
      "coordinates": [
        {
          "allele": "G",
          "end": 5470,
          "referenceAllele": "C",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.5326C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Gln1776Glu",
        "hgvsWellDefined": "NP_001124457.1:p.Gln1776Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770532",
      "coordinates": [
        {
          "allele": "G",
          "end": 5377,
          "referenceAllele": "C",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.5233C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Gln1745Glu",
        "hgvsWellDefined": "NP_001124458.1:p.Gln1745Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA245813",
      "coordinates": [
        {
          "allele": "G",
          "end": 5710,
          "referenceAllele": "C",
          "start": 5709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.5272C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Gln1758Glu",
        "hgvsWellDefined": "NP_003485.1:p.Gln1758Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5272C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5272C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Gln1758Glu"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Gln1758Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}