{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347216998",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=451588[alleleid]",
        "alleleId": 451588,
        "preferredName": "NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471296",
        "RCV": [
          "RCV000551403",
          "RCV001272824",
          "RCV003144341"
        ],
        "variationId": 471296
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71797782C>G?assembly=hg19",
        "id": "chr2:g.71797782C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71570652C>G?assembly=hg38",
        "id": "chr2:g.71570652C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1358370392",
        "rs": 1358370392
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71797782-C-G?dataset=gnomad_r2_1",
        "id": "2-71797782-C-G",
        "variant": "2:71797782 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71570652-C-G?dataset=gnomad_r3",
        "id": "2-71570652-C-G",
        "variant": "2:71570652 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71570652-C-G?dataset=gnomad_r4",
        "id": "2-71570652-C-G",
        "variant": "2:71570652 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71570652,
          "referenceAllele": "C",
          "start": 71570651
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71570652C>G",
        "CM000664.2:g.71570652C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71797782,
          "referenceAllele": "C",
          "start": 71797781
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71797782C>G",
        "CM000664.1:g.71797782C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71651290,
          "referenceAllele": "C",
          "start": 71651289
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71651290C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122030,
          "referenceAllele": "C",
          "start": 122029
        }
      ],
      "hgvs": [
        "NG_008694.1:g.122030C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.511C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Pro171Ala",
        "hgvsWellDefined": "ENSP00000513536.1:p.Pro171Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3523,
          "referenceAllele": "C",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.3085C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Pro1029Ala",
        "hgvsWellDefined": "ENSP00000258104.3:p.Pro1029Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.3085C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.3085C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Pro1029Ala"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Pro1029Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3283,
          "referenceAllele": "C",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Pro1047Ala",
        "hgvsWellDefined": "ENSP00000386881.3:p.Pro1047Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.3139C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.3139C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Pro1047Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Pro1047Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3362,
          "referenceAllele": "C",
          "start": 3361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.3085C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Pro1029Ala",
        "hgvsWellDefined": "ENSP00000258104.3:p.Pro1029Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3229,
          "referenceAllele": "C",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.3088C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Pro1030Ala",
        "hgvsWellDefined": "ENSP00000377678.2:p.Pro1030Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3229,
          "referenceAllele": "C",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.3088C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Pro1030Ala",
        "hgvsWellDefined": "ENSP00000386512.1:p.Pro1030Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3413,
          "referenceAllele": "C",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.3136C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Pro1046Ala",
        "hgvsWellDefined": "ENSP00000386547.3:p.Pro1046Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.3181C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Pro1061Ala",
        "hgvsWellDefined": "ENSP00000386683.1:p.Pro1061Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.3046C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Pro1016Ala",
        "hgvsWellDefined": "ENSP00000386285.1:p.Pro1016Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3413,
          "referenceAllele": "C",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.3136C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Pro1046Ala",
        "hgvsWellDefined": "ENSP00000387137.1:p.Pro1046Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3280,
          "referenceAllele": "C",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Pro1047Ala",
        "hgvsWellDefined": "ENSP00000386881.3:p.Pro1047Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3280,
          "referenceAllele": "C",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Pro1047Ala",
        "hgvsWellDefined": "ENSP00000386617.1:p.Pro1047Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3455,
          "referenceAllele": "C",
          "start": 3454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Pro1060Ala",
        "hgvsWellDefined": "ENSP00000407046.2:p.Pro1060Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3362,
          "referenceAllele": "C",
          "start": 3361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.3085C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Pro1029Ala",
        "hgvsWellDefined": "ENSP00000398305.2:p.Pro1029Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000461565.1:n.251C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694245",
      "coordinates": [
        {
          "allele": "G",
          "end": 3229,
          "referenceAllele": "C",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.3088C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Pro1030Ala",
        "hgvsWellDefined": "NP_001123927.1:p.Pro1030Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747784",
      "coordinates": [
        {
          "allele": "G",
          "end": 3419,
          "referenceAllele": "C",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.3043C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Pro1015Ala",
        "hgvsWellDefined": "NP_001124448.1:p.Pro1015Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750044",
      "coordinates": [
        {
          "allele": "G",
          "end": 3419,
          "referenceAllele": "C",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.3043C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Pro1015Ala",
        "hgvsWellDefined": "NP_001124449.1:p.Pro1015Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752313",
      "coordinates": [
        {
          "allele": "G",
          "end": 3461,
          "referenceAllele": "C",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.3085C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Pro1029Ala",
        "hgvsWellDefined": "NP_001124450.1:p.Pro1029Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754587",
      "coordinates": [
        {
          "allele": "G",
          "end": 3554,
          "referenceAllele": "C",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Pro1060Ala",
        "hgvsWellDefined": "NP_001124451.1:p.Pro1060Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756852",
      "coordinates": [
        {
          "allele": "G",
          "end": 3512,
          "referenceAllele": "C",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.3136C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Pro1046Ala",
        "hgvsWellDefined": "NP_001124452.1:p.Pro1046Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759117",
      "coordinates": [
        {
          "allele": "G",
          "end": 3512,
          "referenceAllele": "C",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.3136C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Pro1046Ala",
        "hgvsWellDefined": "NP_001124453.1:p.Pro1046Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915973860",
      "coordinates": [
        {
          "allele": "G",
          "end": 3322,
          "referenceAllele": "C",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.3181C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Pro1061Ala",
        "hgvsWellDefined": "NP_001124454.1:p.Pro1061Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763011",
      "coordinates": [
        {
          "allele": "G",
          "end": 3229,
          "referenceAllele": "C",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.3088C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Pro1030Ala",
        "hgvsWellDefined": "NP_001124455.1:p.Pro1030Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765247",
      "coordinates": [
        {
          "allele": "G",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.3046C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Pro1016Ala",
        "hgvsWellDefined": "NP_001124456.1:p.Pro1016Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767489",
      "coordinates": [
        {
          "allele": "G",
          "end": 3280,
          "referenceAllele": "C",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Pro1047Ala",
        "hgvsWellDefined": "NP_001124457.1:p.Pro1047Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769708",
      "coordinates": [
        {
          "allele": "G",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.3046C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Pro1016Ala",
        "hgvsWellDefined": "NP_001124458.1:p.Pro1016Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658674606",
      "coordinates": [
        {
          "allele": "G",
          "end": 3280,
          "referenceAllele": "C",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Pro1047Ala",
        "hgvsWellDefined": "NP_001124459.1:p.Pro1047Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467236",
      "coordinates": [
        {
          "allele": "G",
          "end": 3461,
          "referenceAllele": "C",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.3085C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Pro1029Ala",
        "hgvsWellDefined": "NP_003485.1:p.Pro1029Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3321,
          "referenceAllele": "C",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.3181C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Pro1061Ala",
        "hgvsWellDefined": "XP_005264641.1:p.Pro1061Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4058,
          "referenceAllele": "C",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Pro1060Ala",
        "hgvsWellDefined": "XP_005264642.1:p.Pro1060Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3337,
          "referenceAllele": "C",
          "start": 3336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.3181C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Pro1061Ala",
        "hgvsWellDefined": "XP_005264641.1:p.Pro1061Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4023,
          "referenceAllele": "C",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Pro1060Ala",
        "hgvsWellDefined": "XP_005264642.1:p.Pro1060Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3339,
          "referenceAllele": "C",
          "start": 3338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.3339C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658674606",
      "coordinates": [
        {
          "allele": "G",
          "end": 3283,
          "referenceAllele": "C",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Pro1047Ala",
        "hgvsWellDefined": "NP_001124459.1:p.Pro1047Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.3139C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.3139C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Pro1047Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Pro1047Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694245",
      "coordinates": [
        {
          "allele": "G",
          "end": 3232,
          "referenceAllele": "C",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.3088C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Pro1030Ala",
        "hgvsWellDefined": "NP_001123927.1:p.Pro1030Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747784",
      "coordinates": [
        {
          "allele": "G",
          "end": 3481,
          "referenceAllele": "C",
          "start": 3480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.3043C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Pro1015Ala",
        "hgvsWellDefined": "NP_001124448.1:p.Pro1015Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750044",
      "coordinates": [
        {
          "allele": "G",
          "end": 3481,
          "referenceAllele": "C",
          "start": 3480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.3043C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Pro1015Ala",
        "hgvsWellDefined": "NP_001124449.1:p.Pro1015Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752313",
      "coordinates": [
        {
          "allele": "G",
          "end": 3523,
          "referenceAllele": "C",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.3085C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Pro1029Ala",
        "hgvsWellDefined": "NP_001124450.1:p.Pro1029Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754587",
      "coordinates": [
        {
          "allele": "G",
          "end": 3616,
          "referenceAllele": "C",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.3178C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Pro1060Ala",
        "hgvsWellDefined": "NP_001124451.1:p.Pro1060Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756852",
      "coordinates": [
        {
          "allele": "G",
          "end": 3574,
          "referenceAllele": "C",
          "start": 3573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.3136C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Pro1046Ala",
        "hgvsWellDefined": "NP_001124452.1:p.Pro1046Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759117",
      "coordinates": [
        {
          "allele": "G",
          "end": 3574,
          "referenceAllele": "C",
          "start": 3573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.3136C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Pro1046Ala",
        "hgvsWellDefined": "NP_001124453.1:p.Pro1046Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915973860",
      "coordinates": [
        {
          "allele": "G",
          "end": 3325,
          "referenceAllele": "C",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.3181C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Pro1061Ala",
        "hgvsWellDefined": "NP_001124454.1:p.Pro1061Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763011",
      "coordinates": [
        {
          "allele": "G",
          "end": 3232,
          "referenceAllele": "C",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.3088C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Pro1030Ala",
        "hgvsWellDefined": "NP_001124455.1:p.Pro1030Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765247",
      "coordinates": [
        {
          "allele": "G",
          "end": 3190,
          "referenceAllele": "C",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.3046C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Pro1016Ala",
        "hgvsWellDefined": "NP_001124456.1:p.Pro1016Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767489",
      "coordinates": [
        {
          "allele": "G",
          "end": 3283,
          "referenceAllele": "C",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.3139C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Pro1047Ala",
        "hgvsWellDefined": "NP_001124457.1:p.Pro1047Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769708",
      "coordinates": [
        {
          "allele": "G",
          "end": 3190,
          "referenceAllele": "C",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.3046C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Pro1016Ala",
        "hgvsWellDefined": "NP_001124458.1:p.Pro1016Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467236",
      "coordinates": [
        {
          "allele": "G",
          "end": 3523,
          "referenceAllele": "C",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.3085C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Pro1029Ala",
        "hgvsWellDefined": "NP_003485.1:p.Pro1029Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.3085C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.3085C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Pro1029Ala"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Pro1029Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}