{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706890",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1022680",
        "active": true,
        "id": "COSM1022680"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1592384",
        "active": true,
        "id": "COSM1592384"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274907[alleleid]",
        "alleleId": 274907,
        "preferredName": "NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290670",
        "RCV": [
          "RCV000343174",
          "RCV000392904",
          "RCV001140152",
          "RCV003380540",
          "RCV000266196"
        ],
        "variationId": 290670
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71838614-G-A",
        "id": "2-71838614-G-A",
        "variant": "2:71838614 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71838614G>A?assembly=hg19",
        "id": "chr2:g.71838614G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71611484G>A?assembly=hg38",
        "id": "chr2:g.71611484G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747583441",
        "rs": 747583441
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71838614-G-A?dataset=gnomad_r2_1",
        "id": "2-71838614-G-A",
        "variant": "2:71838614 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71611484-G-A?dataset=gnomad_r3",
        "id": "2-71611484-G-A",
        "variant": "2:71611484 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71611484-G-A?dataset=gnomad_r4",
        "id": "2-71611484-G-A",
        "variant": "2:71611484 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71611484,
          "referenceAllele": "G",
          "start": 71611483
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71611484G>A",
        "CM000664.2:g.71611484G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71838614,
          "referenceAllele": "G",
          "start": 71838613
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71838614G>A",
        "CM000664.1:g.71838614G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71692122,
          "referenceAllele": "G",
          "start": 71692121
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71692122G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162862,
          "referenceAllele": "G",
          "start": 162861
        }
      ],
      "hgvs": [
        "NG_008694.1:g.162862G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "referenceAllele": "G",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.1493G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Arg498Gln",
        "hgvsWellDefined": "ENSP00000513536.1:p.Arg498Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Arg237Gln",
        "hgvsWellDefined": "ENSP00000513537.1:p.Arg237Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.668G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Arg223Gln",
        "hgvsWellDefined": "ENSP00000513538.1:p.Arg223Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4463,
          "referenceAllele": "G",
          "start": 4462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Arg1342Gln",
        "hgvsWellDefined": "ENSP00000258104.3:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4025G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4025G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Arg1342Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Arg1342Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4223,
          "referenceAllele": "G",
          "start": 4222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Arg1360Gln",
        "hgvsWellDefined": "ENSP00000386881.3:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4079G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4079G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Arg1360Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Arg1360Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4302,
          "referenceAllele": "G",
          "start": 4301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Arg1342Gln",
        "hgvsWellDefined": "ENSP00000258104.3:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.4028G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Arg1343Gln",
        "hgvsWellDefined": "ENSP00000377678.2:p.Arg1343Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.4028G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Arg1343Gln",
        "hgvsWellDefined": "ENSP00000386512.1:p.Arg1343Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4353,
          "referenceAllele": "G",
          "start": 4352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.4076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Arg1359Gln",
        "hgvsWellDefined": "ENSP00000386547.3:p.Arg1359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4262,
          "referenceAllele": "G",
          "start": 4261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Arg1374Gln",
        "hgvsWellDefined": "ENSP00000386683.1:p.Arg1374Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4127,
          "referenceAllele": "G",
          "start": 4126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.3986G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Arg1329Gln",
        "hgvsWellDefined": "ENSP00000386285.1:p.Arg1329Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4353,
          "referenceAllele": "G",
          "start": 4352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.4076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Arg1359Gln",
        "hgvsWellDefined": "ENSP00000387137.1:p.Arg1359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Arg1360Gln",
        "hgvsWellDefined": "ENSP00000386881.3:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Arg1360Gln",
        "hgvsWellDefined": "ENSP00000386617.1:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4395,
          "referenceAllele": "G",
          "start": 4394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.4118G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Arg1373Gln",
        "hgvsWellDefined": "ENSP00000407046.2:p.Arg1373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4302,
          "referenceAllele": "G",
          "start": 4301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Arg1342Gln",
        "hgvsWellDefined": "ENSP00000398305.2:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "referenceAllele": "G",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000468173.1:n.261G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000472873.5:n.409G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 910,
          "referenceAllele": "G",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.910G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000487180.5:n.244G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 365,
          "endIntronDirection": "-",
          "endIntronOffset": 42,
          "referenceAllele": "G",
          "start": 365,
          "startIntronDirection": "-",
          "startIntronOffset": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000494501.5:n.366-43G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694781",
      "coordinates": [
        {
          "allele": "A",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.4028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Arg1343Gln",
        "hgvsWellDefined": "NP_001123927.1:p.Arg1343Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748156",
      "coordinates": [
        {
          "allele": "A",
          "end": 4359,
          "referenceAllele": "G",
          "start": 4358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.3983G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Arg1328Gln",
        "hgvsWellDefined": "NP_001124448.1:p.Arg1328Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750415",
      "coordinates": [
        {
          "allele": "A",
          "end": 4359,
          "referenceAllele": "G",
          "start": 4358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.3983G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Arg1328Gln",
        "hgvsWellDefined": "NP_001124449.1:p.Arg1328Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752682",
      "coordinates": [
        {
          "allele": "A",
          "end": 4401,
          "referenceAllele": "G",
          "start": 4400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Arg1342Gln",
        "hgvsWellDefined": "NP_001124450.1:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754959",
      "coordinates": [
        {
          "allele": "A",
          "end": 4494,
          "referenceAllele": "G",
          "start": 4493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.4118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Arg1373Gln",
        "hgvsWellDefined": "NP_001124451.1:p.Arg1373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757224",
      "coordinates": [
        {
          "allele": "A",
          "end": 4452,
          "referenceAllele": "G",
          "start": 4451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.4076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Arg1359Gln",
        "hgvsWellDefined": "NP_001124452.1:p.Arg1359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759490",
      "coordinates": [
        {
          "allele": "A",
          "end": 4452,
          "referenceAllele": "G",
          "start": 4451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.4076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Arg1359Gln",
        "hgvsWellDefined": "NP_001124453.1:p.Arg1359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915974121",
      "coordinates": [
        {
          "allele": "A",
          "end": 4262,
          "referenceAllele": "G",
          "start": 4261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Arg1374Gln",
        "hgvsWellDefined": "NP_001124454.1:p.Arg1374Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763381",
      "coordinates": [
        {
          "allele": "A",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.4028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Arg1343Gln",
        "hgvsWellDefined": "NP_001124455.1:p.Arg1343Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765620",
      "coordinates": [
        {
          "allele": "A",
          "end": 4127,
          "referenceAllele": "G",
          "start": 4126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.3986G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Arg1329Gln",
        "hgvsWellDefined": "NP_001124456.1:p.Arg1329Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767862",
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Arg1360Gln",
        "hgvsWellDefined": "NP_001124457.1:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770079",
      "coordinates": [
        {
          "allele": "A",
          "end": 4127,
          "referenceAllele": "G",
          "start": 4126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.3986G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Arg1329Gln",
        "hgvsWellDefined": "NP_001124458.1:p.Arg1329Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477699",
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Arg1360Gln",
        "hgvsWellDefined": "NP_001124459.1:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467755",
      "coordinates": [
        {
          "allele": "A",
          "end": 4401,
          "referenceAllele": "G",
          "start": 4400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Arg1342Gln",
        "hgvsWellDefined": "NP_003485.1:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4261,
          "referenceAllele": "G",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Arg1374Gln",
        "hgvsWellDefined": "XP_005264641.1:p.Arg1374Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4998,
          "referenceAllele": "G",
          "start": 4997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.4118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Arg1373Gln",
        "hgvsWellDefined": "XP_005264642.1:p.Arg1373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4277,
          "referenceAllele": "G",
          "start": 4276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Arg1374Gln",
        "hgvsWellDefined": "XP_005264641.1:p.Arg1374Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4963,
          "referenceAllele": "G",
          "start": 4962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.4118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Arg1373Gln",
        "hgvsWellDefined": "XP_005264642.1:p.Arg1373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4279,
          "referenceAllele": "G",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.4279G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477699",
      "coordinates": [
        {
          "allele": "A",
          "end": 4223,
          "referenceAllele": "G",
          "start": 4222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Arg1360Gln",
        "hgvsWellDefined": "NP_001124459.1:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4079G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4079G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Arg1360Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Arg1360Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694781",
      "coordinates": [
        {
          "allele": "A",
          "end": 4172,
          "referenceAllele": "G",
          "start": 4171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.4028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Arg1343Gln",
        "hgvsWellDefined": "NP_001123927.1:p.Arg1343Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748156",
      "coordinates": [
        {
          "allele": "A",
          "end": 4421,
          "referenceAllele": "G",
          "start": 4420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.3983G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Arg1328Gln",
        "hgvsWellDefined": "NP_001124448.1:p.Arg1328Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750415",
      "coordinates": [
        {
          "allele": "A",
          "end": 4421,
          "referenceAllele": "G",
          "start": 4420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.3983G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Arg1328Gln",
        "hgvsWellDefined": "NP_001124449.1:p.Arg1328Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752682",
      "coordinates": [
        {
          "allele": "A",
          "end": 4463,
          "referenceAllele": "G",
          "start": 4462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Arg1342Gln",
        "hgvsWellDefined": "NP_001124450.1:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754959",
      "coordinates": [
        {
          "allele": "A",
          "end": 4556,
          "referenceAllele": "G",
          "start": 4555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.4118G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Arg1373Gln",
        "hgvsWellDefined": "NP_001124451.1:p.Arg1373Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757224",
      "coordinates": [
        {
          "allele": "A",
          "end": 4514,
          "referenceAllele": "G",
          "start": 4513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.4076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Arg1359Gln",
        "hgvsWellDefined": "NP_001124452.1:p.Arg1359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759490",
      "coordinates": [
        {
          "allele": "A",
          "end": 4514,
          "referenceAllele": "G",
          "start": 4513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.4076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Arg1359Gln",
        "hgvsWellDefined": "NP_001124453.1:p.Arg1359Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915974121",
      "coordinates": [
        {
          "allele": "A",
          "end": 4265,
          "referenceAllele": "G",
          "start": 4264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Arg1374Gln",
        "hgvsWellDefined": "NP_001124454.1:p.Arg1374Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763381",
      "coordinates": [
        {
          "allele": "A",
          "end": 4172,
          "referenceAllele": "G",
          "start": 4171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.4028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Arg1343Gln",
        "hgvsWellDefined": "NP_001124455.1:p.Arg1343Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765620",
      "coordinates": [
        {
          "allele": "A",
          "end": 4130,
          "referenceAllele": "G",
          "start": 4129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.3986G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Arg1329Gln",
        "hgvsWellDefined": "NP_001124456.1:p.Arg1329Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767862",
      "coordinates": [
        {
          "allele": "A",
          "end": 4223,
          "referenceAllele": "G",
          "start": 4222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.4079G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Arg1360Gln",
        "hgvsWellDefined": "NP_001124457.1:p.Arg1360Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770079",
      "coordinates": [
        {
          "allele": "A",
          "end": 4130,
          "referenceAllele": "G",
          "start": 4129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.3986G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Arg1329Gln",
        "hgvsWellDefined": "NP_001124458.1:p.Arg1329Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467755",
      "coordinates": [
        {
          "allele": "A",
          "end": 4463,
          "referenceAllele": "G",
          "start": 4462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.4025G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Arg1342Gln",
        "hgvsWellDefined": "NP_003485.1:p.Arg1342Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4025G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4025G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Arg1342Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Arg1342Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}