{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706900",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492346[alleleid]",
        "alleleId": 492346,
        "preferredName": "NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/500922",
        "RCV": [
          "RCV000591033",
          "RCV002491213",
          "RCV003574784"
        ],
        "variationId": 500922
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71838670-T-C",
        "id": "2-71838670-T-C",
        "variant": "2:71838670 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71838670T>C?assembly=hg19",
        "id": "chr2:g.71838670T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71611540T>C?assembly=hg38",
        "id": "chr2:g.71611540T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776472879",
        "rs": 776472879
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71838670-T-C?dataset=gnomad_r2_1",
        "id": "2-71838670-T-C",
        "variant": "2:71838670 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71611540-T-C?dataset=gnomad_r4",
        "id": "2-71611540-T-C",
        "variant": "2:71611540 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71611540,
          "referenceAllele": "T",
          "start": 71611539
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71611540T>C",
        "CM000664.2:g.71611540T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71838670,
          "referenceAllele": "T",
          "start": 71838669
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71838670T>C",
        "CM000664.1:g.71838670T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71692178,
          "referenceAllele": "T",
          "start": 71692177
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71692178T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 162918,
          "referenceAllele": "T",
          "start": 162917
        }
      ],
      "hgvs": [
        "NG_008694.1:g.162918T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1549,
          "referenceAllele": "T",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.1549T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Cys517Arg",
        "hgvsWellDefined": "ENSP00000513536.1:p.Cys517Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 957,
          "referenceAllele": "T",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.766T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Cys256Arg",
        "hgvsWellDefined": "ENSP00000513537.1:p.Cys256Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 915,
          "referenceAllele": "T",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.724T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Cys242Arg",
        "hgvsWellDefined": "ENSP00000513538.1:p.Cys242Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4519,
          "referenceAllele": "T",
          "start": 4518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.4081T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Cys1361Arg",
        "hgvsWellDefined": "ENSP00000258104.3:p.Cys1361Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4081T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4081T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Cys1361Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Cys1361Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4279,
          "referenceAllele": "T",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.4135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Cys1379Arg",
        "hgvsWellDefined": "ENSP00000386881.3:p.Cys1379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4135T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4135T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Cys1379Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Cys1379Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4358,
          "referenceAllele": "T",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.4081T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Cys1361Arg",
        "hgvsWellDefined": "ENSP00000258104.3:p.Cys1361Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4225,
          "referenceAllele": "T",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.4084T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Cys1362Arg",
        "hgvsWellDefined": "ENSP00000377678.2:p.Cys1362Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4225,
          "referenceAllele": "T",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.4084T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Cys1362Arg",
        "hgvsWellDefined": "ENSP00000386512.1:p.Cys1362Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4409,
          "referenceAllele": "T",
          "start": 4408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.4132T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Cys1378Arg",
        "hgvsWellDefined": "ENSP00000386547.3:p.Cys1378Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4318,
          "referenceAllele": "T",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.4177T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Cys1393Arg",
        "hgvsWellDefined": "ENSP00000386683.1:p.Cys1393Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4183,
          "referenceAllele": "T",
          "start": 4182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.4042T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Cys1348Arg",
        "hgvsWellDefined": "ENSP00000386285.1:p.Cys1348Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4409,
          "referenceAllele": "T",
          "start": 4408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.4132T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Cys1378Arg",
        "hgvsWellDefined": "ENSP00000387137.1:p.Cys1378Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4276,
          "referenceAllele": "T",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.4135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Cys1379Arg",
        "hgvsWellDefined": "ENSP00000386881.3:p.Cys1379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4276,
          "referenceAllele": "T",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.4135T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Cys1379Arg",
        "hgvsWellDefined": "ENSP00000386617.1:p.Cys1379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4451,
          "referenceAllele": "T",
          "start": 4450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.4174T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Cys1392Arg",
        "hgvsWellDefined": "ENSP00000407046.2:p.Cys1392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4358,
          "referenceAllele": "T",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.4081T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Cys1361Arg",
        "hgvsWellDefined": "ENSP00000398305.2:p.Cys1361Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "referenceAllele": "T",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000468173.1:n.317T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "T",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000472873.5:n.465T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 966,
          "referenceAllele": "T",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.966T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 300,
          "referenceAllele": "T",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000487180.5:n.300T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "T",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000494501.5:n.379T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694804",
      "coordinates": [
        {
          "allele": "C",
          "end": 4225,
          "referenceAllele": "T",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.4084T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Cys1362Arg",
        "hgvsWellDefined": "NP_001123927.1:p.Cys1362Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748172",
      "coordinates": [
        {
          "allele": "C",
          "end": 4415,
          "referenceAllele": "T",
          "start": 4414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.4039T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Cys1347Arg",
        "hgvsWellDefined": "NP_001124448.1:p.Cys1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750431",
      "coordinates": [
        {
          "allele": "C",
          "end": 4415,
          "referenceAllele": "T",
          "start": 4414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.4039T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Cys1347Arg",
        "hgvsWellDefined": "NP_001124449.1:p.Cys1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752698",
      "coordinates": [
        {
          "allele": "C",
          "end": 4457,
          "referenceAllele": "T",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.4081T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Cys1361Arg",
        "hgvsWellDefined": "NP_001124450.1:p.Cys1361Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754974",
      "coordinates": [
        {
          "allele": "C",
          "end": 4550,
          "referenceAllele": "T",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.4174T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Cys1392Arg",
        "hgvsWellDefined": "NP_001124451.1:p.Cys1392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757239",
      "coordinates": [
        {
          "allele": "C",
          "end": 4508,
          "referenceAllele": "T",
          "start": 4507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.4132T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Cys1378Arg",
        "hgvsWellDefined": "NP_001124452.1:p.Cys1378Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759504",
      "coordinates": [
        {
          "allele": "C",
          "end": 4508,
          "referenceAllele": "T",
          "start": 4507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.4132T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Cys1378Arg",
        "hgvsWellDefined": "NP_001124453.1:p.Cys1378Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915974135",
      "coordinates": [
        {
          "allele": "C",
          "end": 4318,
          "referenceAllele": "T",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.4177T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Cys1393Arg",
        "hgvsWellDefined": "NP_001124454.1:p.Cys1393Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763398",
      "coordinates": [
        {
          "allele": "C",
          "end": 4225,
          "referenceAllele": "T",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.4084T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Cys1362Arg",
        "hgvsWellDefined": "NP_001124455.1:p.Cys1362Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765635",
      "coordinates": [
        {
          "allele": "C",
          "end": 4183,
          "referenceAllele": "T",
          "start": 4182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.4042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Cys1348Arg",
        "hgvsWellDefined": "NP_001124456.1:p.Cys1348Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767876",
      "coordinates": [
        {
          "allele": "C",
          "end": 4276,
          "referenceAllele": "T",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.4135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Cys1379Arg",
        "hgvsWellDefined": "NP_001124457.1:p.Cys1379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770095",
      "coordinates": [
        {
          "allele": "C",
          "end": 4183,
          "referenceAllele": "T",
          "start": 4182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.4042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Cys1348Arg",
        "hgvsWellDefined": "NP_001124458.1:p.Cys1348Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806906",
      "coordinates": [
        {
          "allele": "C",
          "end": 4276,
          "referenceAllele": "T",
          "start": 4275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.4135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Cys1379Arg",
        "hgvsWellDefined": "NP_001124459.1:p.Cys1379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110837",
      "coordinates": [
        {
          "allele": "C",
          "end": 4457,
          "referenceAllele": "T",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.4081T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Cys1361Arg",
        "hgvsWellDefined": "NP_003485.1:p.Cys1361Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4317,
          "referenceAllele": "T",
          "start": 4316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.4177T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Cys1393Arg",
        "hgvsWellDefined": "XP_005264641.1:p.Cys1393Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5054,
          "referenceAllele": "T",
          "start": 5053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.4174T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Cys1392Arg",
        "hgvsWellDefined": "XP_005264642.1:p.Cys1392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4333,
          "referenceAllele": "T",
          "start": 4332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.4177T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Cys1393Arg",
        "hgvsWellDefined": "XP_005264641.1:p.Cys1393Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5019,
          "referenceAllele": "T",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.4174T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Cys1392Arg",
        "hgvsWellDefined": "XP_005264642.1:p.Cys1392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4335,
          "referenceAllele": "T",
          "start": 4334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.4335T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806906",
      "coordinates": [
        {
          "allele": "C",
          "end": 4279,
          "referenceAllele": "T",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.4135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Cys1379Arg",
        "hgvsWellDefined": "NP_001124459.1:p.Cys1379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4135T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4135T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Cys1379Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Cys1379Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694804",
      "coordinates": [
        {
          "allele": "C",
          "end": 4228,
          "referenceAllele": "T",
          "start": 4227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.4084T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Cys1362Arg",
        "hgvsWellDefined": "NP_001123927.1:p.Cys1362Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748172",
      "coordinates": [
        {
          "allele": "C",
          "end": 4477,
          "referenceAllele": "T",
          "start": 4476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.4039T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Cys1347Arg",
        "hgvsWellDefined": "NP_001124448.1:p.Cys1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750431",
      "coordinates": [
        {
          "allele": "C",
          "end": 4477,
          "referenceAllele": "T",
          "start": 4476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.4039T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Cys1347Arg",
        "hgvsWellDefined": "NP_001124449.1:p.Cys1347Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752698",
      "coordinates": [
        {
          "allele": "C",
          "end": 4519,
          "referenceAllele": "T",
          "start": 4518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.4081T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Cys1361Arg",
        "hgvsWellDefined": "NP_001124450.1:p.Cys1361Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754974",
      "coordinates": [
        {
          "allele": "C",
          "end": 4612,
          "referenceAllele": "T",
          "start": 4611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.4174T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Cys1392Arg",
        "hgvsWellDefined": "NP_001124451.1:p.Cys1392Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757239",
      "coordinates": [
        {
          "allele": "C",
          "end": 4570,
          "referenceAllele": "T",
          "start": 4569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.4132T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Cys1378Arg",
        "hgvsWellDefined": "NP_001124452.1:p.Cys1378Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759504",
      "coordinates": [
        {
          "allele": "C",
          "end": 4570,
          "referenceAllele": "T",
          "start": 4569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.4132T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Cys1378Arg",
        "hgvsWellDefined": "NP_001124453.1:p.Cys1378Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915974135",
      "coordinates": [
        {
          "allele": "C",
          "end": 4321,
          "referenceAllele": "T",
          "start": 4320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.4177T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Cys1393Arg",
        "hgvsWellDefined": "NP_001124454.1:p.Cys1393Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763398",
      "coordinates": [
        {
          "allele": "C",
          "end": 4228,
          "referenceAllele": "T",
          "start": 4227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.4084T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Cys1362Arg",
        "hgvsWellDefined": "NP_001124455.1:p.Cys1362Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765635",
      "coordinates": [
        {
          "allele": "C",
          "end": 4186,
          "referenceAllele": "T",
          "start": 4185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.4042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Cys1348Arg",
        "hgvsWellDefined": "NP_001124456.1:p.Cys1348Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767876",
      "coordinates": [
        {
          "allele": "C",
          "end": 4279,
          "referenceAllele": "T",
          "start": 4278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.4135T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Cys1379Arg",
        "hgvsWellDefined": "NP_001124457.1:p.Cys1379Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770095",
      "coordinates": [
        {
          "allele": "C",
          "end": 4186,
          "referenceAllele": "T",
          "start": 4185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.4042T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Cys1348Arg",
        "hgvsWellDefined": "NP_001124458.1:p.Cys1348Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110837",
      "coordinates": [
        {
          "allele": "C",
          "end": 4519,
          "referenceAllele": "T",
          "start": 4518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.4081T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Cys1361Arg",
        "hgvsWellDefined": "NP_003485.1:p.Cys1361Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4081T>C"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4081T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Cys1361Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Cys1361Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}