{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1705710",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.1371G>C (p.Ala457=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269391[alleleid]",
        "alleleId": 269391,
        "preferredName": "NM_001130987.2(DYSF):c.1371G>C (p.Ala457=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285154",
        "RCV": [
          "RCV000336901",
          "RCV001489194"
        ],
        "variationId": 285154
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71755522-G-C",
        "id": "2-71755522-G-C",
        "variant": "2:71755522 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71755522G>C?assembly=hg19",
        "id": "chr2:g.71755522G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71528392G>C?assembly=hg38",
        "id": "chr2:g.71528392G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140667960",
        "rs": 140667960
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71755522-G-C?dataset=gnomad_r2_1",
        "id": "2-71755522-G-C",
        "variant": "2:71755522 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71528392-G-C?dataset=gnomad_r3",
        "id": "2-71528392-G-C",
        "variant": "2:71528392 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71528392-G-C?dataset=gnomad_r4",
        "id": "2-71528392-G-C",
        "variant": "2:71528392 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71528392,
          "referenceAllele": "G",
          "start": 71528391
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71528392G>C",
        "CM000664.2:g.71528392G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71755522,
          "referenceAllele": "G",
          "start": 71755521
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71755522G>C",
        "CM000664.1:g.71755522G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71609030,
          "referenceAllele": "G",
          "start": 71609029
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71609030G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79770,
          "referenceAllele": "G",
          "start": 79769
        }
      ],
      "hgvs": [
        "NG_008694.1:g.79770G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1275G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1275G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ala425="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ala425="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1371G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1371G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ala457="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ala457="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "G",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "G",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825693350",
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747173",
      "coordinates": [
        {
          "allele": "C",
          "end": 1651,
          "referenceAllele": "G",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825749434",
      "coordinates": [
        {
          "allele": "C",
          "end": 1651,
          "referenceAllele": "G",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751694",
      "coordinates": [
        {
          "allele": "C",
          "end": 1651,
          "referenceAllele": "G",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753965",
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756240",
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825758505",
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825760746",
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762400",
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825764637",
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766877",
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769110",
      "coordinates": [
        {
          "allele": "C",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771069",
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "G",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829466294",
      "coordinates": [
        {
          "allele": "C",
          "end": 1651,
          "referenceAllele": "G",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2248,
          "referenceAllele": "G",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1527,
          "referenceAllele": "G",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.1529G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771069",
      "coordinates": [
        {
          "allele": "C",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1371G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1371G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ala457="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ala457="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825693350",
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747173",
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825749434",
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751694",
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753965",
      "coordinates": [
        {
          "allele": "C",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756240",
      "coordinates": [
        {
          "allele": "C",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825758505",
      "coordinates": [
        {
          "allele": "C",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.1368G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ala456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825760746",
      "coordinates": [
        {
          "allele": "C",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762400",
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825764637",
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766877",
      "coordinates": [
        {
          "allele": "C",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.1371G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ala457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769110",
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.1278G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ala426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829466294",
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.1275G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ala425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1275G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1275G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ala425="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ala425="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}