{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1707309",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1250851",
        "active": true,
        "id": "COSM1250851"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1250852",
        "active": true,
        "id": "COSM1250852"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267122[alleleid]",
        "alleleId": 267122,
        "preferredName": "NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282885",
        "RCV": [
          "RCV000689268",
          "RCV000711566",
          "RCV001274852",
          "RCV003278732"
        ],
        "variationId": 282885
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71892393-G-A",
        "id": "2-71892393-G-A",
        "variant": "2:71892393 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71892393G>A?assembly=hg19",
        "id": "chr2:g.71892393G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71665263G>A?assembly=hg38",
        "id": "chr2:g.71665263G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147678255",
        "rs": 147678255
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71892393-G-A?dataset=gnomad_r2_1",
        "id": "2-71892393-G-A",
        "variant": "2:71892393 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71665263-G-A?dataset=gnomad_r3",
        "id": "2-71665263-G-A",
        "variant": "2:71665263 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71665263-G-A?dataset=gnomad_r4",
        "id": "2-71665263-G-A",
        "variant": "2:71665263 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71665263,
          "referenceAllele": "G",
          "start": 71665262
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71665263G>A",
        "CM000664.2:g.71665263G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71892393,
          "referenceAllele": "G",
          "start": 71892392
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71892393G>A",
        "CM000664.1:g.71892393G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71745901,
          "referenceAllele": "G",
          "start": 71745900
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71745901G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216641,
          "referenceAllele": "G",
          "start": 216640
        }
      ],
      "hgvs": [
        "NG_008694.1:g.216641G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2690,
          "referenceAllele": "G",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.2690G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Arg897His",
        "hgvsWellDefined": "ENSP00000513536.1:p.Arg897His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2098,
          "referenceAllele": "G",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.1907G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Arg636His",
        "hgvsWellDefined": "ENSP00000513537.1:p.Arg636His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2206,
          "referenceAllele": "G",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.2015G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Arg672His",
        "hgvsWellDefined": "ENSP00000513538.1:p.Arg672His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5597,
          "referenceAllele": "G",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.5159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Arg1720His",
        "hgvsWellDefined": "ENSP00000258104.3:p.Arg1720His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5159G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5159G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Arg1720His"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Arg1720His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5420,
          "referenceAllele": "G",
          "start": 5419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.5276G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Arg1759His",
        "hgvsWellDefined": "ENSP00000386881.3:p.Arg1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5276G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5276G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Arg1759His"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Arg1759His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5436,
          "referenceAllele": "G",
          "start": 5435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.5159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Arg1720His",
        "hgvsWellDefined": "ENSP00000258104.3:p.Arg1720His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5303,
          "referenceAllele": "G",
          "start": 5302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.5162G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Arg1721His",
        "hgvsWellDefined": "ENSP00000377678.2:p.Arg1721His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5366,
          "referenceAllele": "G",
          "start": 5365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.5225G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Arg1742His",
        "hgvsWellDefined": "ENSP00000386512.1:p.Arg1742His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "G",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.5273G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Arg1758His",
        "hgvsWellDefined": "ENSP00000386547.3:p.Arg1758His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5396,
          "referenceAllele": "G",
          "start": 5395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.5255G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Arg1752His",
        "hgvsWellDefined": "ENSP00000386683.1:p.Arg1752His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5324,
          "referenceAllele": "G",
          "start": 5323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.5183G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Arg1728His",
        "hgvsWellDefined": "ENSP00000386285.1:p.Arg1728His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5487,
          "referenceAllele": "G",
          "start": 5486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.5210G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Arg1737His",
        "hgvsWellDefined": "ENSP00000387137.1:p.Arg1737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5417,
          "referenceAllele": "G",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.5276G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Arg1759His",
        "hgvsWellDefined": "ENSP00000386881.3:p.Arg1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.5213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Arg1738His",
        "hgvsWellDefined": "ENSP00000386617.1:p.Arg1738His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5529,
          "referenceAllele": "G",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.5252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Arg1751His",
        "hgvsWellDefined": "ENSP00000407046.2:p.Arg1751His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5499,
          "referenceAllele": "G",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Arg1741His",
        "hgvsWellDefined": "ENSP00000398305.2:p.Arg1741His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.2044G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695433",
      "coordinates": [
        {
          "allele": "A",
          "end": 5303,
          "referenceAllele": "G",
          "start": 5302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.5162G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Arg1721His",
        "hgvsWellDefined": "NP_001123927.1:p.Arg1721His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748571",
      "coordinates": [
        {
          "allele": "A",
          "end": 5493,
          "referenceAllele": "G",
          "start": 5492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.5117G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Arg1706His",
        "hgvsWellDefined": "NP_001124448.1:p.Arg1706His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750835",
      "coordinates": [
        {
          "allele": "A",
          "end": 5556,
          "referenceAllele": "G",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.5180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Arg1727His",
        "hgvsWellDefined": "NP_001124449.1:p.Arg1727His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753103",
      "coordinates": [
        {
          "allele": "A",
          "end": 5598,
          "referenceAllele": "G",
          "start": 5597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Arg1741His",
        "hgvsWellDefined": "NP_001124450.1:p.Arg1741His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755373",
      "coordinates": [
        {
          "allele": "A",
          "end": 5628,
          "referenceAllele": "G",
          "start": 5627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.5252G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Arg1751His",
        "hgvsWellDefined": "NP_001124451.1:p.Arg1751His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757638",
      "coordinates": [
        {
          "allele": "A",
          "end": 5586,
          "referenceAllele": "G",
          "start": 5585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.5210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Arg1737His",
        "hgvsWellDefined": "NP_001124452.1:p.Arg1737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759909",
      "coordinates": [
        {
          "allele": "A",
          "end": 5649,
          "referenceAllele": "G",
          "start": 5648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.5273G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Arg1758His",
        "hgvsWellDefined": "NP_001124453.1:p.Arg1758His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761565",
      "coordinates": [
        {
          "allele": "A",
          "end": 5396,
          "referenceAllele": "G",
          "start": 5395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.5255G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Arg1752His",
        "hgvsWellDefined": "NP_001124454.1:p.Arg1752His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763802",
      "coordinates": [
        {
          "allele": "A",
          "end": 5366,
          "referenceAllele": "G",
          "start": 5365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.5225G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Arg1742His",
        "hgvsWellDefined": "NP_001124455.1:p.Arg1742His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766040",
      "coordinates": [
        {
          "allele": "A",
          "end": 5324,
          "referenceAllele": "G",
          "start": 5323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.5183G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Arg1728His",
        "hgvsWellDefined": "NP_001124456.1:p.Arg1728His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768276",
      "coordinates": [
        {
          "allele": "A",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.5213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Arg1738His",
        "hgvsWellDefined": "NP_001124457.1:p.Arg1738His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770494",
      "coordinates": [
        {
          "allele": "A",
          "end": 5261,
          "referenceAllele": "G",
          "start": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Arg1707His",
        "hgvsWellDefined": "NP_001124458.1:p.Arg1707His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477795",
      "coordinates": [
        {
          "allele": "A",
          "end": 5417,
          "referenceAllele": "G",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.5276G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Arg1759His",
        "hgvsWellDefined": "NP_001124459.1:p.Arg1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468590",
      "coordinates": [
        {
          "allele": "A",
          "end": 5535,
          "referenceAllele": "G",
          "start": 5534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.5159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Arg1720His",
        "hgvsWellDefined": "NP_003485.1:p.Arg1720His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5458,
          "referenceAllele": "G",
          "start": 5457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.5318G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Arg1773His",
        "hgvsWellDefined": "XP_005264641.1:p.Arg1773His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6195,
          "referenceAllele": "G",
          "start": 6194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.5315G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Arg1772His",
        "hgvsWellDefined": "XP_005264642.1:p.Arg1772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5474,
          "referenceAllele": "G",
          "start": 5473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.5318G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Arg1773His",
        "hgvsWellDefined": "XP_005264641.1:p.Arg1773His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6160,
          "referenceAllele": "G",
          "start": 6159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.5315G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Arg1772His",
        "hgvsWellDefined": "XP_005264642.1:p.Arg1772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5674,
          "referenceAllele": "G",
          "start": 5673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.5674G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477795",
      "coordinates": [
        {
          "allele": "A",
          "end": 5420,
          "referenceAllele": "G",
          "start": 5419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.5276G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Arg1759His",
        "hgvsWellDefined": "NP_001124459.1:p.Arg1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5276G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5276G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Arg1759His"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Arg1759His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695433",
      "coordinates": [
        {
          "allele": "A",
          "end": 5306,
          "referenceAllele": "G",
          "start": 5305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.5162G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Arg1721His",
        "hgvsWellDefined": "NP_001123927.1:p.Arg1721His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748571",
      "coordinates": [
        {
          "allele": "A",
          "end": 5555,
          "referenceAllele": "G",
          "start": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.5117G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Arg1706His",
        "hgvsWellDefined": "NP_001124448.1:p.Arg1706His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750835",
      "coordinates": [
        {
          "allele": "A",
          "end": 5618,
          "referenceAllele": "G",
          "start": 5617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.5180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Arg1727His",
        "hgvsWellDefined": "NP_001124449.1:p.Arg1727His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753103",
      "coordinates": [
        {
          "allele": "A",
          "end": 5660,
          "referenceAllele": "G",
          "start": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Arg1741His",
        "hgvsWellDefined": "NP_001124450.1:p.Arg1741His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755373",
      "coordinates": [
        {
          "allele": "A",
          "end": 5690,
          "referenceAllele": "G",
          "start": 5689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.5252G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Arg1751His",
        "hgvsWellDefined": "NP_001124451.1:p.Arg1751His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757638",
      "coordinates": [
        {
          "allele": "A",
          "end": 5648,
          "referenceAllele": "G",
          "start": 5647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.5210G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Arg1737His",
        "hgvsWellDefined": "NP_001124452.1:p.Arg1737His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759909",
      "coordinates": [
        {
          "allele": "A",
          "end": 5711,
          "referenceAllele": "G",
          "start": 5710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.5273G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Arg1758His",
        "hgvsWellDefined": "NP_001124453.1:p.Arg1758His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761565",
      "coordinates": [
        {
          "allele": "A",
          "end": 5399,
          "referenceAllele": "G",
          "start": 5398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.5255G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Arg1752His",
        "hgvsWellDefined": "NP_001124454.1:p.Arg1752His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763802",
      "coordinates": [
        {
          "allele": "A",
          "end": 5369,
          "referenceAllele": "G",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.5225G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Arg1742His",
        "hgvsWellDefined": "NP_001124455.1:p.Arg1742His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766040",
      "coordinates": [
        {
          "allele": "A",
          "end": 5327,
          "referenceAllele": "G",
          "start": 5326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.5183G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Arg1728His",
        "hgvsWellDefined": "NP_001124456.1:p.Arg1728His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768276",
      "coordinates": [
        {
          "allele": "A",
          "end": 5357,
          "referenceAllele": "G",
          "start": 5356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.5213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Arg1738His",
        "hgvsWellDefined": "NP_001124457.1:p.Arg1738His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770494",
      "coordinates": [
        {
          "allele": "A",
          "end": 5264,
          "referenceAllele": "G",
          "start": 5263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.5120G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Arg1707His",
        "hgvsWellDefined": "NP_001124458.1:p.Arg1707His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468590",
      "coordinates": [
        {
          "allele": "A",
          "end": 5597,
          "referenceAllele": "G",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.5159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Arg1720His",
        "hgvsWellDefined": "NP_003485.1:p.Arg1720His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.5159G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.5159G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Arg1720His"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Arg1720His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}