{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706515",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.3305G>A (p.Arg1102His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5883494"
      },
      {
        "active": false,
        "id": "COSM5883495"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1288672[alleleid]",
        "alleleId": 1288672,
        "preferredName": "NM_001130987.2(DYSF):c.3305G>A (p.Arg1102His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1298810",
        "RCV": [
          "RCV001727140",
          "RCV002032690"
        ],
        "variationId": 1298810
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71801404-G-A",
        "id": "2-71801404-G-A",
        "variant": "2:71801404 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71801404G>A?assembly=hg19",
        "id": "chr2:g.71801404G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71574274G>A?assembly=hg38",
        "id": "chr2:g.71574274G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369345918",
        "rs": 369345918
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71801404-G-A?dataset=gnomad_r2_1",
        "id": "2-71801404-G-A",
        "variant": "2:71801404 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71574274-G-A?dataset=gnomad_r3",
        "id": "2-71574274-G-A",
        "variant": "2:71574274 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71574274-G-A?dataset=gnomad_r4",
        "id": "2-71574274-G-A",
        "variant": "2:71574274 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71574274,
          "referenceAllele": "G",
          "start": 71574273
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71574274G>A",
        "CM000664.2:g.71574274G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71801404,
          "referenceAllele": "G",
          "start": 71801403
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71801404G>A",
        "CM000664.1:g.71801404G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71654912,
          "referenceAllele": "G",
          "start": 71654911
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71654912G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125652,
          "referenceAllele": "G",
          "start": 125651
        }
      ],
      "hgvs": [
        "NG_008694.1:g.125652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.677G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Arg226His",
        "hgvsWellDefined": "ENSP00000513536.1:p.Arg226His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3689,
          "referenceAllele": "G",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.3251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Arg1084His",
        "hgvsWellDefined": "ENSP00000258104.3:p.Arg1084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.3251G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.3251G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Arg1084His"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Arg1084His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3449,
          "referenceAllele": "G",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.3305G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Arg1102His",
        "hgvsWellDefined": "ENSP00000386881.3:p.Arg1102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.3305G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.3305G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Arg1102His"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Arg1102His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3528,
          "referenceAllele": "G",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.3251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Arg1084His",
        "hgvsWellDefined": "ENSP00000258104.3:p.Arg1084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3395,
          "referenceAllele": "G",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.3254G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Arg1085His",
        "hgvsWellDefined": "ENSP00000377678.2:p.Arg1085His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3395,
          "referenceAllele": "G",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.3254G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Arg1085His",
        "hgvsWellDefined": "ENSP00000386512.1:p.Arg1085His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3579,
          "referenceAllele": "G",
          "start": 3578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.3302G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Arg1101His",
        "hgvsWellDefined": "ENSP00000386547.3:p.Arg1101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.3347G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Arg1116His",
        "hgvsWellDefined": "ENSP00000386683.1:p.Arg1116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3353,
          "referenceAllele": "G",
          "start": 3352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.3212G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Arg1071His",
        "hgvsWellDefined": "ENSP00000386285.1:p.Arg1071His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3579,
          "referenceAllele": "G",
          "start": 3578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.3302G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Arg1101His",
        "hgvsWellDefined": "ENSP00000387137.1:p.Arg1101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3446,
          "referenceAllele": "G",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.3305G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Arg1102His",
        "hgvsWellDefined": "ENSP00000386881.3:p.Arg1102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3446,
          "referenceAllele": "G",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.3305G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Arg1102His",
        "hgvsWellDefined": "ENSP00000386617.1:p.Arg1102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3621,
          "referenceAllele": "G",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.3344G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Arg1115His",
        "hgvsWellDefined": "ENSP00000407046.2:p.Arg1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3528,
          "referenceAllele": "G",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.3251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Arg1084His",
        "hgvsWellDefined": "ENSP00000398305.2:p.Arg1084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694360",
      "coordinates": [
        {
          "allele": "A",
          "end": 3395,
          "referenceAllele": "G",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.3254G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Arg1085His",
        "hgvsWellDefined": "NP_001123927.1:p.Arg1085His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747857",
      "coordinates": [
        {
          "allele": "A",
          "end": 3585,
          "referenceAllele": "G",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.3209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Arg1070His",
        "hgvsWellDefined": "NP_001124448.1:p.Arg1070His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750116",
      "coordinates": [
        {
          "allele": "A",
          "end": 3585,
          "referenceAllele": "G",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.3209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Arg1070His",
        "hgvsWellDefined": "NP_001124449.1:p.Arg1070His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752385",
      "coordinates": [
        {
          "allele": "A",
          "end": 3627,
          "referenceAllele": "G",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.3251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Arg1084His",
        "hgvsWellDefined": "NP_001124450.1:p.Arg1084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754659",
      "coordinates": [
        {
          "allele": "A",
          "end": 3720,
          "referenceAllele": "G",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.3344G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Arg1115His",
        "hgvsWellDefined": "NP_001124451.1:p.Arg1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756924",
      "coordinates": [
        {
          "allele": "A",
          "end": 3678,
          "referenceAllele": "G",
          "start": 3677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.3302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Arg1101His",
        "hgvsWellDefined": "NP_001124452.1:p.Arg1101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759190",
      "coordinates": [
        {
          "allele": "A",
          "end": 3678,
          "referenceAllele": "G",
          "start": 3677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.3302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Arg1101His",
        "hgvsWellDefined": "NP_001124453.1:p.Arg1101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499238934",
      "coordinates": [
        {
          "allele": "A",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.3347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Arg1116His",
        "hgvsWellDefined": "NP_001124454.1:p.Arg1116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763084",
      "coordinates": [
        {
          "allele": "A",
          "end": 3395,
          "referenceAllele": "G",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.3254G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Arg1085His",
        "hgvsWellDefined": "NP_001124455.1:p.Arg1085His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765321",
      "coordinates": [
        {
          "allele": "A",
          "end": 3353,
          "referenceAllele": "G",
          "start": 3352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.3212G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Arg1071His",
        "hgvsWellDefined": "NP_001124456.1:p.Arg1071His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767562",
      "coordinates": [
        {
          "allele": "A",
          "end": 3446,
          "referenceAllele": "G",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.3305G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Arg1102His",
        "hgvsWellDefined": "NP_001124457.1:p.Arg1102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769780",
      "coordinates": [
        {
          "allele": "A",
          "end": 3353,
          "referenceAllele": "G",
          "start": 3352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.3212G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Arg1071His",
        "hgvsWellDefined": "NP_001124458.1:p.Arg1071His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771562",
      "coordinates": [
        {
          "allele": "A",
          "end": 3446,
          "referenceAllele": "G",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.3305G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Arg1102His",
        "hgvsWellDefined": "NP_001124459.1:p.Arg1102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467330",
      "coordinates": [
        {
          "allele": "A",
          "end": 3627,
          "referenceAllele": "G",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.3251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Arg1084His",
        "hgvsWellDefined": "NP_003485.1:p.Arg1084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3487,
          "referenceAllele": "G",
          "start": 3486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.3347G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Arg1116His",
        "hgvsWellDefined": "XP_005264641.1:p.Arg1116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4224,
          "referenceAllele": "G",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.3344G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Arg1115His",
        "hgvsWellDefined": "XP_005264642.1:p.Arg1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3503,
          "referenceAllele": "G",
          "start": 3502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.3347G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Arg1116His",
        "hgvsWellDefined": "XP_005264641.1:p.Arg1116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4189,
          "referenceAllele": "G",
          "start": 4188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.3344G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Arg1115His",
        "hgvsWellDefined": "XP_005264642.1:p.Arg1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.3505G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771562",
      "coordinates": [
        {
          "allele": "A",
          "end": 3449,
          "referenceAllele": "G",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.3305G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Arg1102His",
        "hgvsWellDefined": "NP_001124459.1:p.Arg1102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.3305G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.3305G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Arg1102His"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Arg1102His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694360",
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "referenceAllele": "G",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.3254G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Arg1085His",
        "hgvsWellDefined": "NP_001123927.1:p.Arg1085His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747857",
      "coordinates": [
        {
          "allele": "A",
          "end": 3647,
          "referenceAllele": "G",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.3209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Arg1070His",
        "hgvsWellDefined": "NP_001124448.1:p.Arg1070His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750116",
      "coordinates": [
        {
          "allele": "A",
          "end": 3647,
          "referenceAllele": "G",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.3209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Arg1070His",
        "hgvsWellDefined": "NP_001124449.1:p.Arg1070His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752385",
      "coordinates": [
        {
          "allele": "A",
          "end": 3689,
          "referenceAllele": "G",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.3251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Arg1084His",
        "hgvsWellDefined": "NP_001124450.1:p.Arg1084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754659",
      "coordinates": [
        {
          "allele": "A",
          "end": 3782,
          "referenceAllele": "G",
          "start": 3781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.3344G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Arg1115His",
        "hgvsWellDefined": "NP_001124451.1:p.Arg1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756924",
      "coordinates": [
        {
          "allele": "A",
          "end": 3740,
          "referenceAllele": "G",
          "start": 3739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.3302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Arg1101His",
        "hgvsWellDefined": "NP_001124452.1:p.Arg1101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759190",
      "coordinates": [
        {
          "allele": "A",
          "end": 3740,
          "referenceAllele": "G",
          "start": 3739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.3302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Arg1101His",
        "hgvsWellDefined": "NP_001124453.1:p.Arg1101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499238934",
      "coordinates": [
        {
          "allele": "A",
          "end": 3491,
          "referenceAllele": "G",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.3347G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Arg1116His",
        "hgvsWellDefined": "NP_001124454.1:p.Arg1116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763084",
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "referenceAllele": "G",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.3254G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Arg1085His",
        "hgvsWellDefined": "NP_001124455.1:p.Arg1085His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765321",
      "coordinates": [
        {
          "allele": "A",
          "end": 3356,
          "referenceAllele": "G",
          "start": 3355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.3212G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Arg1071His",
        "hgvsWellDefined": "NP_001124456.1:p.Arg1071His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767562",
      "coordinates": [
        {
          "allele": "A",
          "end": 3449,
          "referenceAllele": "G",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.3305G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Arg1102His",
        "hgvsWellDefined": "NP_001124457.1:p.Arg1102His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769780",
      "coordinates": [
        {
          "allele": "A",
          "end": 3356,
          "referenceAllele": "G",
          "start": 3355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.3212G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Arg1071His",
        "hgvsWellDefined": "NP_001124458.1:p.Arg1071His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467330",
      "coordinates": [
        {
          "allele": "A",
          "end": 3689,
          "referenceAllele": "G",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.3251G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Arg1084His",
        "hgvsWellDefined": "NP_003485.1:p.Arg1084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.3251G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.3251G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Arg1084His"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Arg1084His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}