{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706943",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.4252C>T (p.Pro1418Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1360035[alleleid]",
        "alleleId": 1360035,
        "preferredName": "NM_001130987.2(DYSF):c.4252C>T (p.Pro1418Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1525577",
        "RCV": [
          "RCV002036793",
          "RCV003146503"
        ],
        "variationId": 1525577
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71839801-C-T",
        "id": "2-71839801-C-T",
        "variant": "2:71839801 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71839801C>T?assembly=hg19",
        "id": "chr2:g.71839801C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71612671C>T?assembly=hg38",
        "id": "chr2:g.71612671C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151268930",
        "rs": 151268930
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71839801-C-T?dataset=gnomad_r2_1",
        "id": "2-71839801-C-T",
        "variant": "2:71839801 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71612671-C-T?dataset=gnomad_r4",
        "id": "2-71612671-C-T",
        "variant": "2:71612671 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71612671,
          "referenceAllele": "C",
          "start": 71612670
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71612671C>T",
        "CM000664.2:g.71612671C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71839801,
          "referenceAllele": "C",
          "start": 71839800
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71839801C>T",
        "CM000664.1:g.71839801C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71693309,
          "referenceAllele": "C",
          "start": 71693308
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71693309C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164049,
          "referenceAllele": "C",
          "start": 164048
        }
      ],
      "hgvs": [
        "NG_008694.1:g.164049C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1666,
          "referenceAllele": "C",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.1666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Pro556Ser",
        "hgvsWellDefined": "ENSP00000513536.1:p.Pro556Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.883C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Pro295Ser",
        "hgvsWellDefined": "ENSP00000513537.1:p.Pro295Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.841C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Pro281Ser",
        "hgvsWellDefined": "ENSP00000513538.1:p.Pro281Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4636,
          "referenceAllele": "C",
          "start": 4635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Pro1400Ser",
        "hgvsWellDefined": "ENSP00000258104.3:p.Pro1400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4198C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4198C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Pro1400Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Pro1400Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4396,
          "referenceAllele": "C",
          "start": 4395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.4252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Pro1418Ser",
        "hgvsWellDefined": "ENSP00000386881.3:p.Pro1418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4252C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4252C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Pro1418Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Pro1418Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4475,
          "referenceAllele": "C",
          "start": 4474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Pro1400Ser",
        "hgvsWellDefined": "ENSP00000258104.3:p.Pro1400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4342,
          "referenceAllele": "C",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.4201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Pro1401Ser",
        "hgvsWellDefined": "ENSP00000377678.2:p.Pro1401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4342,
          "referenceAllele": "C",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.4201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Pro1401Ser",
        "hgvsWellDefined": "ENSP00000386512.1:p.Pro1401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "referenceAllele": "C",
          "start": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.4249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Pro1417Ser",
        "hgvsWellDefined": "ENSP00000386547.3:p.Pro1417Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4435,
          "referenceAllele": "C",
          "start": 4434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.4294C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Pro1432Ser",
        "hgvsWellDefined": "ENSP00000386683.1:p.Pro1432Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4300,
          "referenceAllele": "C",
          "start": 4299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.4159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Pro1387Ser",
        "hgvsWellDefined": "ENSP00000386285.1:p.Pro1387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "referenceAllele": "C",
          "start": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.4249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Pro1417Ser",
        "hgvsWellDefined": "ENSP00000387137.1:p.Pro1417Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4393,
          "referenceAllele": "C",
          "start": 4392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.4252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Pro1418Ser",
        "hgvsWellDefined": "ENSP00000386881.3:p.Pro1418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4393,
          "referenceAllele": "C",
          "start": 4392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.4252C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Pro1418Ser",
        "hgvsWellDefined": "ENSP00000386617.1:p.Pro1418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4568,
          "referenceAllele": "C",
          "start": 4567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.4291C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Pro1431Ser",
        "hgvsWellDefined": "ENSP00000407046.2:p.Pro1431Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4475,
          "referenceAllele": "C",
          "start": 4474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Pro1400Ser",
        "hgvsWellDefined": "ENSP00000398305.2:p.Pro1400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000468173.1:n.434C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000472873.5:n.582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.1083C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000487180.5:n.417C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000494501.5:n.496C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694868",
      "coordinates": [
        {
          "allele": "T",
          "end": 4342,
          "referenceAllele": "C",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.4201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Pro1401Ser",
        "hgvsWellDefined": "NP_001123927.1:p.Pro1401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748216",
      "coordinates": [
        {
          "allele": "T",
          "end": 4532,
          "referenceAllele": "C",
          "start": 4531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.4156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Pro1386Ser",
        "hgvsWellDefined": "NP_001124448.1:p.Pro1386Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750476",
      "coordinates": [
        {
          "allele": "T",
          "end": 4532,
          "referenceAllele": "C",
          "start": 4531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.4156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Pro1386Ser",
        "hgvsWellDefined": "NP_001124449.1:p.Pro1386Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752744",
      "coordinates": [
        {
          "allele": "T",
          "end": 4574,
          "referenceAllele": "C",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Pro1400Ser",
        "hgvsWellDefined": "NP_001124450.1:p.Pro1400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755018",
      "coordinates": [
        {
          "allele": "T",
          "end": 4667,
          "referenceAllele": "C",
          "start": 4666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.4291C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Pro1431Ser",
        "hgvsWellDefined": "NP_001124451.1:p.Pro1431Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757283",
      "coordinates": [
        {
          "allele": "T",
          "end": 4625,
          "referenceAllele": "C",
          "start": 4624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.4249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Pro1417Ser",
        "hgvsWellDefined": "NP_001124452.1:p.Pro1417Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759550",
      "coordinates": [
        {
          "allele": "T",
          "end": 4625,
          "referenceAllele": "C",
          "start": 4624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.4249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Pro1417Ser",
        "hgvsWellDefined": "NP_001124453.1:p.Pro1417Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573183003",
      "coordinates": [
        {
          "allele": "T",
          "end": 4435,
          "referenceAllele": "C",
          "start": 4434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.4294C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Pro1432Ser",
        "hgvsWellDefined": "NP_001124454.1:p.Pro1432Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763442",
      "coordinates": [
        {
          "allele": "T",
          "end": 4342,
          "referenceAllele": "C",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.4201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Pro1401Ser",
        "hgvsWellDefined": "NP_001124455.1:p.Pro1401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765682",
      "coordinates": [
        {
          "allele": "T",
          "end": 4300,
          "referenceAllele": "C",
          "start": 4299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.4159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Pro1387Ser",
        "hgvsWellDefined": "NP_001124456.1:p.Pro1387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767920",
      "coordinates": [
        {
          "allele": "T",
          "end": 4393,
          "referenceAllele": "C",
          "start": 4392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.4252C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Pro1418Ser",
        "hgvsWellDefined": "NP_001124457.1:p.Pro1418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770143",
      "coordinates": [
        {
          "allele": "T",
          "end": 4300,
          "referenceAllele": "C",
          "start": 4299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.4159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Pro1387Ser",
        "hgvsWellDefined": "NP_001124458.1:p.Pro1387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771836",
      "coordinates": [
        {
          "allele": "T",
          "end": 4393,
          "referenceAllele": "C",
          "start": 4392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.4252C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Pro1418Ser",
        "hgvsWellDefined": "NP_001124459.1:p.Pro1418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467849",
      "coordinates": [
        {
          "allele": "T",
          "end": 4574,
          "referenceAllele": "C",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Pro1400Ser",
        "hgvsWellDefined": "NP_003485.1:p.Pro1400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4434,
          "referenceAllele": "C",
          "start": 4433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.4294C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Pro1432Ser",
        "hgvsWellDefined": "XP_005264641.1:p.Pro1432Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5171,
          "referenceAllele": "C",
          "start": 5170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.4291C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Pro1431Ser",
        "hgvsWellDefined": "XP_005264642.1:p.Pro1431Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4450,
          "referenceAllele": "C",
          "start": 4449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.4294C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Pro1432Ser",
        "hgvsWellDefined": "XP_005264641.1:p.Pro1432Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5136,
          "referenceAllele": "C",
          "start": 5135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.4291C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Pro1431Ser",
        "hgvsWellDefined": "XP_005264642.1:p.Pro1431Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4452,
          "referenceAllele": "C",
          "start": 4451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.4452C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771836",
      "coordinates": [
        {
          "allele": "T",
          "end": 4396,
          "referenceAllele": "C",
          "start": 4395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.4252C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Pro1418Ser",
        "hgvsWellDefined": "NP_001124459.1:p.Pro1418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4252C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4252C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Pro1418Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Pro1418Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694868",
      "coordinates": [
        {
          "allele": "T",
          "end": 4345,
          "referenceAllele": "C",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.4201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Pro1401Ser",
        "hgvsWellDefined": "NP_001123927.1:p.Pro1401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748216",
      "coordinates": [
        {
          "allele": "T",
          "end": 4594,
          "referenceAllele": "C",
          "start": 4593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.4156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Pro1386Ser",
        "hgvsWellDefined": "NP_001124448.1:p.Pro1386Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750476",
      "coordinates": [
        {
          "allele": "T",
          "end": 4594,
          "referenceAllele": "C",
          "start": 4593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.4156C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Pro1386Ser",
        "hgvsWellDefined": "NP_001124449.1:p.Pro1386Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752744",
      "coordinates": [
        {
          "allele": "T",
          "end": 4636,
          "referenceAllele": "C",
          "start": 4635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Pro1400Ser",
        "hgvsWellDefined": "NP_001124450.1:p.Pro1400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755018",
      "coordinates": [
        {
          "allele": "T",
          "end": 4729,
          "referenceAllele": "C",
          "start": 4728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.4291C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Pro1431Ser",
        "hgvsWellDefined": "NP_001124451.1:p.Pro1431Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757283",
      "coordinates": [
        {
          "allele": "T",
          "end": 4687,
          "referenceAllele": "C",
          "start": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.4249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Pro1417Ser",
        "hgvsWellDefined": "NP_001124452.1:p.Pro1417Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759550",
      "coordinates": [
        {
          "allele": "T",
          "end": 4687,
          "referenceAllele": "C",
          "start": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.4249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Pro1417Ser",
        "hgvsWellDefined": "NP_001124453.1:p.Pro1417Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573183003",
      "coordinates": [
        {
          "allele": "T",
          "end": 4438,
          "referenceAllele": "C",
          "start": 4437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.4294C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Pro1432Ser",
        "hgvsWellDefined": "NP_001124454.1:p.Pro1432Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763442",
      "coordinates": [
        {
          "allele": "T",
          "end": 4345,
          "referenceAllele": "C",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.4201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Pro1401Ser",
        "hgvsWellDefined": "NP_001124455.1:p.Pro1401Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765682",
      "coordinates": [
        {
          "allele": "T",
          "end": 4303,
          "referenceAllele": "C",
          "start": 4302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.4159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Pro1387Ser",
        "hgvsWellDefined": "NP_001124456.1:p.Pro1387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767920",
      "coordinates": [
        {
          "allele": "T",
          "end": 4396,
          "referenceAllele": "C",
          "start": 4395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.4252C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Pro1418Ser",
        "hgvsWellDefined": "NP_001124457.1:p.Pro1418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770143",
      "coordinates": [
        {
          "allele": "T",
          "end": 4303,
          "referenceAllele": "C",
          "start": 4302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.4159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Pro1387Ser",
        "hgvsWellDefined": "NP_001124458.1:p.Pro1387Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467849",
      "coordinates": [
        {
          "allele": "T",
          "end": 4636,
          "referenceAllele": "C",
          "start": 4635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Pro1400Ser",
        "hgvsWellDefined": "NP_003485.1:p.Pro1400Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4198C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4198C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Pro1400Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Pro1400Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}