{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1707259",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=542368[alleleid]",
        "alleleId": 542368,
        "preferredName": "NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553247",
        "RCV": [
          "RCV000668653",
          "RCV002507163",
          "RCV002532078",
          "RCV003459599"
        ],
        "variationId": 553247
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71891544-G-C",
        "id": "2-71891544-G-C",
        "variant": "2:71891544 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71891544G>C?assembly=hg19",
        "id": "chr2:g.71891544G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71664414G>C?assembly=hg38",
        "id": "chr2:g.71664414G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753279446",
        "rs": 753279446
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71891544-G-C?dataset=gnomad_r2_1",
        "id": "2-71891544-G-C",
        "variant": "2:71891544 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71664414-G-C?dataset=gnomad_r4",
        "id": "2-71664414-G-C",
        "variant": "2:71664414 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71664414,
          "referenceAllele": "G",
          "start": 71664413
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71664414G>C",
        "CM000664.2:g.71664414G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71891544,
          "referenceAllele": "G",
          "start": 71891543
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71891544G>C",
        "CM000664.1:g.71891544G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 71745052,
          "referenceAllele": "G",
          "start": 71745051
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71745052G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 215792,
          "referenceAllele": "G",
          "start": 215791
        }
      ],
      "hgvs": [
        "NG_008694.1:g.215792G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.2564G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Cys855Ser",
        "hgvsWellDefined": "ENSP00000513536.1:p.Cys855Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1972,
          "referenceAllele": "G",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.1781G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Cys594Ser",
        "hgvsWellDefined": "ENSP00000513537.1:p.Cys594Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.1889G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Cys630Ser",
        "hgvsWellDefined": "ENSP00000513538.1:p.Cys630Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5471,
          "referenceAllele": "G",
          "start": 5470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.5033G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Cys1678Ser",
        "hgvsWellDefined": "ENSP00000258104.3:p.Cys1678Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5033G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5033G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Cys1678Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Cys1678Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5294,
          "referenceAllele": "G",
          "start": 5293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.5150G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Cys1717Ser",
        "hgvsWellDefined": "ENSP00000386881.3:p.Cys1717Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5150G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5150G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Cys1717Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Cys1717Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5310,
          "referenceAllele": "G",
          "start": 5309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.5033G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Cys1678Ser",
        "hgvsWellDefined": "ENSP00000258104.3:p.Cys1678Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5177,
          "referenceAllele": "G",
          "start": 5176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.5036G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Cys1679Ser",
        "hgvsWellDefined": "ENSP00000377678.2:p.Cys1679Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5240,
          "referenceAllele": "G",
          "start": 5239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.5099G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Cys1700Ser",
        "hgvsWellDefined": "ENSP00000386512.1:p.Cys1700Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5424,
          "referenceAllele": "G",
          "start": 5423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.5147G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Cys1716Ser",
        "hgvsWellDefined": "ENSP00000386547.3:p.Cys1716Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5270,
          "referenceAllele": "G",
          "start": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.5129G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Cys1710Ser",
        "hgvsWellDefined": "ENSP00000386683.1:p.Cys1710Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.5057G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Cys1686Ser",
        "hgvsWellDefined": "ENSP00000386285.1:p.Cys1686Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5361,
          "referenceAllele": "G",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.5084G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Cys1695Ser",
        "hgvsWellDefined": "ENSP00000387137.1:p.Cys1695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5291,
          "referenceAllele": "G",
          "start": 5290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.5150G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Cys1717Ser",
        "hgvsWellDefined": "ENSP00000386881.3:p.Cys1717Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5228,
          "referenceAllele": "G",
          "start": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.5087G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Cys1696Ser",
        "hgvsWellDefined": "ENSP00000386617.1:p.Cys1696Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5403,
          "referenceAllele": "G",
          "start": 5402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.5126G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Cys1709Ser",
        "hgvsWellDefined": "ENSP00000407046.2:p.Cys1709Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5373,
          "referenceAllele": "G",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.5096G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Cys1699Ser",
        "hgvsWellDefined": "ENSP00000398305.2:p.Cys1699Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.1918G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695359",
      "coordinates": [
        {
          "allele": "C",
          "end": 5177,
          "referenceAllele": "G",
          "start": 5176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.5036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Cys1679Ser",
        "hgvsWellDefined": "NP_001123927.1:p.Cys1679Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748517",
      "coordinates": [
        {
          "allele": "C",
          "end": 5367,
          "referenceAllele": "G",
          "start": 5366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.4991G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Cys1664Ser",
        "hgvsWellDefined": "NP_001124448.1:p.Cys1664Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750781",
      "coordinates": [
        {
          "allele": "C",
          "end": 5430,
          "referenceAllele": "G",
          "start": 5429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.5054G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Cys1685Ser",
        "hgvsWellDefined": "NP_001124449.1:p.Cys1685Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753047",
      "coordinates": [
        {
          "allele": "C",
          "end": 5472,
          "referenceAllele": "G",
          "start": 5471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.5096G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Cys1699Ser",
        "hgvsWellDefined": "NP_001124450.1:p.Cys1699Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755319",
      "coordinates": [
        {
          "allele": "C",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.5126G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Cys1709Ser",
        "hgvsWellDefined": "NP_001124451.1:p.Cys1709Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757585",
      "coordinates": [
        {
          "allele": "C",
          "end": 5460,
          "referenceAllele": "G",
          "start": 5459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.5084G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Cys1695Ser",
        "hgvsWellDefined": "NP_001124452.1:p.Cys1695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759854",
      "coordinates": [
        {
          "allele": "C",
          "end": 5523,
          "referenceAllele": "G",
          "start": 5522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.5147G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Cys1716Ser",
        "hgvsWellDefined": "NP_001124453.1:p.Cys1716Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761511",
      "coordinates": [
        {
          "allele": "C",
          "end": 5270,
          "referenceAllele": "G",
          "start": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.5129G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Cys1710Ser",
        "hgvsWellDefined": "NP_001124454.1:p.Cys1710Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763747",
      "coordinates": [
        {
          "allele": "C",
          "end": 5240,
          "referenceAllele": "G",
          "start": 5239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.5099G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Cys1700Ser",
        "hgvsWellDefined": "NP_001124455.1:p.Cys1700Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765986",
      "coordinates": [
        {
          "allele": "C",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.5057G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Cys1686Ser",
        "hgvsWellDefined": "NP_001124456.1:p.Cys1686Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768221",
      "coordinates": [
        {
          "allele": "C",
          "end": 5228,
          "referenceAllele": "G",
          "start": 5227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.5087G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Cys1696Ser",
        "hgvsWellDefined": "NP_001124457.1:p.Cys1696Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770440",
      "coordinates": [
        {
          "allele": "C",
          "end": 5135,
          "referenceAllele": "G",
          "start": 5134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.4994G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Cys1665Ser",
        "hgvsWellDefined": "NP_001124458.1:p.Cys1665Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658832473",
      "coordinates": [
        {
          "allele": "C",
          "end": 5291,
          "referenceAllele": "G",
          "start": 5290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.5150G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Cys1717Ser",
        "hgvsWellDefined": "NP_001124459.1:p.Cys1717Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468476",
      "coordinates": [
        {
          "allele": "C",
          "end": 5409,
          "referenceAllele": "G",
          "start": 5408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.5033G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Cys1678Ser",
        "hgvsWellDefined": "NP_003485.1:p.Cys1678Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5332,
          "referenceAllele": "G",
          "start": 5331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.5192G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Cys1731Ser",
        "hgvsWellDefined": "XP_005264641.1:p.Cys1731Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6069,
          "referenceAllele": "G",
          "start": 6068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.5189G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Cys1730Ser",
        "hgvsWellDefined": "XP_005264642.1:p.Cys1730Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5348,
          "referenceAllele": "G",
          "start": 5347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.5192G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Cys1731Ser",
        "hgvsWellDefined": "XP_005264641.1:p.Cys1731Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6034,
          "referenceAllele": "G",
          "start": 6033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.5189G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Cys1730Ser",
        "hgvsWellDefined": "XP_005264642.1:p.Cys1730Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5350,
          "referenceAllele": "G",
          "start": 5349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.5350G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658832473",
      "coordinates": [
        {
          "allele": "C",
          "end": 5294,
          "referenceAllele": "G",
          "start": 5293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.5150G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Cys1717Ser",
        "hgvsWellDefined": "NP_001124459.1:p.Cys1717Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5150G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5150G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Cys1717Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Cys1717Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695359",
      "coordinates": [
        {
          "allele": "C",
          "end": 5180,
          "referenceAllele": "G",
          "start": 5179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.5036G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Cys1679Ser",
        "hgvsWellDefined": "NP_001123927.1:p.Cys1679Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748517",
      "coordinates": [
        {
          "allele": "C",
          "end": 5429,
          "referenceAllele": "G",
          "start": 5428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.4991G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Cys1664Ser",
        "hgvsWellDefined": "NP_001124448.1:p.Cys1664Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750781",
      "coordinates": [
        {
          "allele": "C",
          "end": 5492,
          "referenceAllele": "G",
          "start": 5491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.5054G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Cys1685Ser",
        "hgvsWellDefined": "NP_001124449.1:p.Cys1685Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753047",
      "coordinates": [
        {
          "allele": "C",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.5096G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Cys1699Ser",
        "hgvsWellDefined": "NP_001124450.1:p.Cys1699Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755319",
      "coordinates": [
        {
          "allele": "C",
          "end": 5564,
          "referenceAllele": "G",
          "start": 5563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.5126G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Cys1709Ser",
        "hgvsWellDefined": "NP_001124451.1:p.Cys1709Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757585",
      "coordinates": [
        {
          "allele": "C",
          "end": 5522,
          "referenceAllele": "G",
          "start": 5521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.5084G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Cys1695Ser",
        "hgvsWellDefined": "NP_001124452.1:p.Cys1695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759854",
      "coordinates": [
        {
          "allele": "C",
          "end": 5585,
          "referenceAllele": "G",
          "start": 5584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.5147G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Cys1716Ser",
        "hgvsWellDefined": "NP_001124453.1:p.Cys1716Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761511",
      "coordinates": [
        {
          "allele": "C",
          "end": 5273,
          "referenceAllele": "G",
          "start": 5272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.5129G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Cys1710Ser",
        "hgvsWellDefined": "NP_001124454.1:p.Cys1710Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763747",
      "coordinates": [
        {
          "allele": "C",
          "end": 5243,
          "referenceAllele": "G",
          "start": 5242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.5099G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Cys1700Ser",
        "hgvsWellDefined": "NP_001124455.1:p.Cys1700Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765986",
      "coordinates": [
        {
          "allele": "C",
          "end": 5201,
          "referenceAllele": "G",
          "start": 5200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.5057G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Cys1686Ser",
        "hgvsWellDefined": "NP_001124456.1:p.Cys1686Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768221",
      "coordinates": [
        {
          "allele": "C",
          "end": 5231,
          "referenceAllele": "G",
          "start": 5230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.5087G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Cys1696Ser",
        "hgvsWellDefined": "NP_001124457.1:p.Cys1696Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770440",
      "coordinates": [
        {
          "allele": "C",
          "end": 5138,
          "referenceAllele": "G",
          "start": 5137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.4994G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Cys1665Ser",
        "hgvsWellDefined": "NP_001124458.1:p.Cys1665Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468476",
      "coordinates": [
        {
          "allele": "C",
          "end": 5471,
          "referenceAllele": "G",
          "start": 5470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.5033G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Cys1678Ser",
        "hgvsWellDefined": "NP_003485.1:p.Cys1678Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5033G>C"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5033G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Cys1678Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Cys1678Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}