{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706430",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265920[alleleid]",
        "alleleId": 265920,
        "preferredName": "NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281683",
        "RCV": [
          "RCV000280424",
          "RCV000322455",
          "RCV000376750",
          "RCV000648035",
          "RCV001091458",
          "RCV001276436"
        ],
        "variationId": 281683
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71797754-C-T",
        "id": "2-71797754-C-T",
        "variant": "2:71797754 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71797754C>T?assembly=hg19",
        "id": "chr2:g.71797754C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71570624C>T?assembly=hg38",
        "id": "chr2:g.71570624C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143475751",
        "rs": 143475751
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71797754-C-T?dataset=gnomad_r2_1",
        "id": "2-71797754-C-T",
        "variant": "2:71797754 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71570624-C-T?dataset=gnomad_r3",
        "id": "2-71570624-C-T",
        "variant": "2:71570624 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71570624-C-T?dataset=gnomad_r4",
        "id": "2-71570624-C-T",
        "variant": "2:71570624 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71570624,
          "referenceAllele": "C",
          "start": 71570623
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71570624C>T",
        "CM000664.2:g.71570624C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71797754,
          "referenceAllele": "C",
          "start": 71797753
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71797754C>T",
        "CM000664.1:g.71797754C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71651262,
          "referenceAllele": "C",
          "start": 71651261
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71651262C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122002,
          "referenceAllele": "C",
          "start": 122001
        }
      ],
      "hgvs": [
        "NG_008694.1:g.122002C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.483C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Pro161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3495,
          "referenceAllele": "C",
          "start": 3494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.3057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Pro1019="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.3057C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.3057C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Pro1019="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Pro1019="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.3111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Pro1037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.3111C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.3111C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Pro1037="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Pro1037="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3334,
          "referenceAllele": "C",
          "start": 3333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.3057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Pro1019="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3201,
          "referenceAllele": "C",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.3060C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Pro1020="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3201,
          "referenceAllele": "C",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.3060C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Pro1020="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.3108C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Pro1036="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3294,
          "referenceAllele": "C",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.3153C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Pro1051="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.3018C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Pro1006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3385,
          "referenceAllele": "C",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.3108C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Pro1036="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3252,
          "referenceAllele": "C",
          "start": 3251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.3111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Pro1037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3252,
          "referenceAllele": "C",
          "start": 3251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.3111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Pro1037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3427,
          "referenceAllele": "C",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.3150C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Pro1050="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3334,
          "referenceAllele": "C",
          "start": 3333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.3057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Pro1019="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000461565.1:n.223C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306046"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694225",
      "coordinates": [
        {
          "allele": "T",
          "end": 3201,
          "referenceAllele": "C",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.3060C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Pro1020="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747771",
      "coordinates": [
        {
          "allele": "T",
          "end": 3391,
          "referenceAllele": "C",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.3015C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Pro1005="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750029",
      "coordinates": [
        {
          "allele": "T",
          "end": 3391,
          "referenceAllele": "C",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.3015C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Pro1005="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752298",
      "coordinates": [
        {
          "allele": "T",
          "end": 3433,
          "referenceAllele": "C",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.3057C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Pro1019="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754572",
      "coordinates": [
        {
          "allele": "T",
          "end": 3526,
          "referenceAllele": "C",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.3150C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Pro1050="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756837",
      "coordinates": [
        {
          "allele": "T",
          "end": 3484,
          "referenceAllele": "C",
          "start": 3483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.3108C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Pro1036="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759102",
      "coordinates": [
        {
          "allele": "T",
          "end": 3484,
          "referenceAllele": "C",
          "start": 3483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.3108C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Pro1036="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761081",
      "coordinates": [
        {
          "allele": "T",
          "end": 3294,
          "referenceAllele": "C",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.3153C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Pro1051="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762997",
      "coordinates": [
        {
          "allele": "T",
          "end": 3201,
          "referenceAllele": "C",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.3060C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Pro1020="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765234",
      "coordinates": [
        {
          "allele": "T",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.3018C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Pro1006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767474",
      "coordinates": [
        {
          "allele": "T",
          "end": 3252,
          "referenceAllele": "C",
          "start": 3251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.3111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Pro1037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769694",
      "coordinates": [
        {
          "allele": "T",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.3018C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Pro1006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771498",
      "coordinates": [
        {
          "allele": "T",
          "end": 3252,
          "referenceAllele": "C",
          "start": 3251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.3111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Pro1037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467221",
      "coordinates": [
        {
          "allele": "T",
          "end": 3433,
          "referenceAllele": "C",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.3057C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Pro1019="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3293,
          "referenceAllele": "C",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.3153C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Pro1051="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4030,
          "referenceAllele": "C",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.3150C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Pro1050="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3309,
          "referenceAllele": "C",
          "start": 3308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.3153C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Pro1051="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3995,
          "referenceAllele": "C",
          "start": 3994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.3150C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Pro1050="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3311,
          "referenceAllele": "C",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.3311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771498",
      "coordinates": [
        {
          "allele": "T",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.3111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Pro1037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.3111C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.3111C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Pro1037="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Pro1037="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694225",
      "coordinates": [
        {
          "allele": "T",
          "end": 3204,
          "referenceAllele": "C",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.3060C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Pro1020="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747771",
      "coordinates": [
        {
          "allele": "T",
          "end": 3453,
          "referenceAllele": "C",
          "start": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.3015C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Pro1005="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750029",
      "coordinates": [
        {
          "allele": "T",
          "end": 3453,
          "referenceAllele": "C",
          "start": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.3015C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Pro1005="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752298",
      "coordinates": [
        {
          "allele": "T",
          "end": 3495,
          "referenceAllele": "C",
          "start": 3494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.3057C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Pro1019="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754572",
      "coordinates": [
        {
          "allele": "T",
          "end": 3588,
          "referenceAllele": "C",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.3150C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Pro1050="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756837",
      "coordinates": [
        {
          "allele": "T",
          "end": 3546,
          "referenceAllele": "C",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.3108C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Pro1036="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759102",
      "coordinates": [
        {
          "allele": "T",
          "end": 3546,
          "referenceAllele": "C",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.3108C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Pro1036="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761081",
      "coordinates": [
        {
          "allele": "T",
          "end": 3297,
          "referenceAllele": "C",
          "start": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.3153C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Pro1051="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762997",
      "coordinates": [
        {
          "allele": "T",
          "end": 3204,
          "referenceAllele": "C",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.3060C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Pro1020="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765234",
      "coordinates": [
        {
          "allele": "T",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.3018C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Pro1006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767474",
      "coordinates": [
        {
          "allele": "T",
          "end": 3255,
          "referenceAllele": "C",
          "start": 3254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.3111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Pro1037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769694",
      "coordinates": [
        {
          "allele": "T",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.3018C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Pro1006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467221",
      "coordinates": [
        {
          "allele": "T",
          "end": 3495,
          "referenceAllele": "C",
          "start": 3494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.3057C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Pro1019="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.3057C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.3057C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Pro1019="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Pro1019="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}