{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1707160",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=518615[alleleid]",
        "alleleId": 518615,
        "preferredName": "NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/538640",
        "RCV": [
          "RCV000648011",
          "RCV001563808",
          "RCV001563809",
          "RCV001563807"
        ],
        "variationId": 538640
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71886119-A-G",
        "id": "2-71886119-A-G",
        "variant": "2:71886119 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71886119A>G?assembly=hg19",
        "id": "chr2:g.71886119A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71658989A>G?assembly=hg38",
        "id": "chr2:g.71658989A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/571364996",
        "rs": 571364996
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71886119-A-G?dataset=gnomad_r2_1",
        "id": "2-71886119-A-G",
        "variant": "2:71886119 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71658989-A-G?dataset=gnomad_r3",
        "id": "2-71658989-A-G",
        "variant": "2:71658989 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71658989-A-G?dataset=gnomad_r4",
        "id": "2-71658989-A-G",
        "variant": "2:71658989 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71658989,
          "referenceAllele": "A",
          "start": 71658988
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71658989A>G",
        "CM000664.2:g.71658989A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71886119,
          "referenceAllele": "A",
          "start": 71886118
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71886119A>G",
        "CM000664.1:g.71886119A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71739627,
          "referenceAllele": "A",
          "start": 71739626
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71739627A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210367,
          "referenceAllele": "A",
          "start": 210366
        }
      ],
      "hgvs": [
        "NG_008694.1:g.210367A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2281,
          "referenceAllele": "A",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.2281A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Ile761Val",
        "hgvsWellDefined": "ENSP00000513536.1:p.Ile761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "referenceAllele": "A",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.1498A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Ile500Val",
        "hgvsWellDefined": "ENSP00000513537.1:p.Ile500Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1797,
          "referenceAllele": "A",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.1606A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Ile536Val",
        "hgvsWellDefined": "ENSP00000513538.1:p.Ile536Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5188,
          "referenceAllele": "A",
          "start": 5187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.4750A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ile1584Val",
        "hgvsWellDefined": "ENSP00000258104.3:p.Ile1584Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4750A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4750A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ile1584Val"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ile1584Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5011,
          "referenceAllele": "A",
          "start": 5010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.4867A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ile1623Val",
        "hgvsWellDefined": "ENSP00000386881.3:p.Ile1623Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4867A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4867A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ile1623Val"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ile1623Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5027,
          "referenceAllele": "A",
          "start": 5026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.4750A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ile1584Val",
        "hgvsWellDefined": "ENSP00000258104.3:p.Ile1584Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4894,
          "referenceAllele": "A",
          "start": 4893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.4753A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Ile1585Val",
        "hgvsWellDefined": "ENSP00000377678.2:p.Ile1585Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4957,
          "referenceAllele": "A",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.4816A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Ile1606Val",
        "hgvsWellDefined": "ENSP00000386512.1:p.Ile1606Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5141,
          "referenceAllele": "A",
          "start": 5140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.4864A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Ile1622Val",
        "hgvsWellDefined": "ENSP00000386547.3:p.Ile1622Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4987,
          "referenceAllele": "A",
          "start": 4986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.4846A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Ile1616Val",
        "hgvsWellDefined": "ENSP00000386683.1:p.Ile1616Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4915,
          "referenceAllele": "A",
          "start": 4914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.4774A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Ile1592Val",
        "hgvsWellDefined": "ENSP00000386285.1:p.Ile1592Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5078,
          "referenceAllele": "A",
          "start": 5077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.4801A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Ile1601Val",
        "hgvsWellDefined": "ENSP00000387137.1:p.Ile1601Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5008,
          "referenceAllele": "A",
          "start": 5007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.4867A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ile1623Val",
        "hgvsWellDefined": "ENSP00000386881.3:p.Ile1623Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4945,
          "referenceAllele": "A",
          "start": 4944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.4804A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Ile1602Val",
        "hgvsWellDefined": "ENSP00000386617.1:p.Ile1602Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5120,
          "referenceAllele": "A",
          "start": 5119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.4843A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Ile1615Val",
        "hgvsWellDefined": "ENSP00000407046.2:p.Ile1615Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5090,
          "referenceAllele": "A",
          "start": 5089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.4813A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Ile1605Val",
        "hgvsWellDefined": "ENSP00000398305.2:p.Ile1605Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "referenceAllele": "A",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.1635A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695201",
      "coordinates": [
        {
          "allele": "G",
          "end": 4894,
          "referenceAllele": "A",
          "start": 4893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.4753A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ile1585Val",
        "hgvsWellDefined": "NP_001123927.1:p.Ile1585Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748419",
      "coordinates": [
        {
          "allele": "G",
          "end": 5084,
          "referenceAllele": "A",
          "start": 5083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.4708A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ile1570Val",
        "hgvsWellDefined": "NP_001124448.1:p.Ile1570Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750683",
      "coordinates": [
        {
          "allele": "G",
          "end": 5147,
          "referenceAllele": "A",
          "start": 5146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.4771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ile1591Val",
        "hgvsWellDefined": "NP_001124449.1:p.Ile1591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752950",
      "coordinates": [
        {
          "allele": "G",
          "end": 5189,
          "referenceAllele": "A",
          "start": 5188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.4813A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ile1605Val",
        "hgvsWellDefined": "NP_001124450.1:p.Ile1605Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755221",
      "coordinates": [
        {
          "allele": "G",
          "end": 5219,
          "referenceAllele": "A",
          "start": 5218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.4843A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ile1615Val",
        "hgvsWellDefined": "NP_001124451.1:p.Ile1615Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757486",
      "coordinates": [
        {
          "allele": "G",
          "end": 5177,
          "referenceAllele": "A",
          "start": 5176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.4801A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ile1601Val",
        "hgvsWellDefined": "NP_001124452.1:p.Ile1601Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759756",
      "coordinates": [
        {
          "allele": "G",
          "end": 5240,
          "referenceAllele": "A",
          "start": 5239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.4864A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ile1622Val",
        "hgvsWellDefined": "NP_001124453.1:p.Ile1622Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761413",
      "coordinates": [
        {
          "allele": "G",
          "end": 4987,
          "referenceAllele": "A",
          "start": 4986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.4846A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ile1616Val",
        "hgvsWellDefined": "NP_001124454.1:p.Ile1616Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763650",
      "coordinates": [
        {
          "allele": "G",
          "end": 4957,
          "referenceAllele": "A",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.4816A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ile1606Val",
        "hgvsWellDefined": "NP_001124455.1:p.Ile1606Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765887",
      "coordinates": [
        {
          "allele": "G",
          "end": 4915,
          "referenceAllele": "A",
          "start": 4914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.4774A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ile1592Val",
        "hgvsWellDefined": "NP_001124456.1:p.Ile1592Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768123",
      "coordinates": [
        {
          "allele": "G",
          "end": 4945,
          "referenceAllele": "A",
          "start": 4944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.4804A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ile1602Val",
        "hgvsWellDefined": "NP_001124457.1:p.Ile1602Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770342",
      "coordinates": [
        {
          "allele": "G",
          "end": 4852,
          "referenceAllele": "A",
          "start": 4851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.4711A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ile1571Val",
        "hgvsWellDefined": "NP_001124458.1:p.Ile1571Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806953",
      "coordinates": [
        {
          "allele": "G",
          "end": 5008,
          "referenceAllele": "A",
          "start": 5007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.4867A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ile1623Val",
        "hgvsWellDefined": "NP_001124459.1:p.Ile1623Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468274",
      "coordinates": [
        {
          "allele": "G",
          "end": 5126,
          "referenceAllele": "A",
          "start": 5125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.4750A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ile1584Val",
        "hgvsWellDefined": "NP_003485.1:p.Ile1584Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5049,
          "referenceAllele": "A",
          "start": 5048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.4909A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ile1637Val",
        "hgvsWellDefined": "XP_005264641.1:p.Ile1637Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5786,
          "referenceAllele": "A",
          "start": 5785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.4906A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ile1636Val",
        "hgvsWellDefined": "XP_005264642.1:p.Ile1636Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5065,
          "referenceAllele": "A",
          "start": 5064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.4909A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ile1637Val",
        "hgvsWellDefined": "XP_005264641.1:p.Ile1637Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5751,
          "referenceAllele": "A",
          "start": 5750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.4906A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ile1636Val",
        "hgvsWellDefined": "XP_005264642.1:p.Ile1636Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5067,
          "referenceAllele": "A",
          "start": 5066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.5067A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806953",
      "coordinates": [
        {
          "allele": "G",
          "end": 5011,
          "referenceAllele": "A",
          "start": 5010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.4867A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ile1623Val",
        "hgvsWellDefined": "NP_001124459.1:p.Ile1623Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4867A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4867A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ile1623Val"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ile1623Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695201",
      "coordinates": [
        {
          "allele": "G",
          "end": 4897,
          "referenceAllele": "A",
          "start": 4896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.4753A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ile1585Val",
        "hgvsWellDefined": "NP_001123927.1:p.Ile1585Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748419",
      "coordinates": [
        {
          "allele": "G",
          "end": 5146,
          "referenceAllele": "A",
          "start": 5145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.4708A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ile1570Val",
        "hgvsWellDefined": "NP_001124448.1:p.Ile1570Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750683",
      "coordinates": [
        {
          "allele": "G",
          "end": 5209,
          "referenceAllele": "A",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.4771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ile1591Val",
        "hgvsWellDefined": "NP_001124449.1:p.Ile1591Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752950",
      "coordinates": [
        {
          "allele": "G",
          "end": 5251,
          "referenceAllele": "A",
          "start": 5250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.4813A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ile1605Val",
        "hgvsWellDefined": "NP_001124450.1:p.Ile1605Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755221",
      "coordinates": [
        {
          "allele": "G",
          "end": 5281,
          "referenceAllele": "A",
          "start": 5280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.4843A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ile1615Val",
        "hgvsWellDefined": "NP_001124451.1:p.Ile1615Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757486",
      "coordinates": [
        {
          "allele": "G",
          "end": 5239,
          "referenceAllele": "A",
          "start": 5238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.4801A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ile1601Val",
        "hgvsWellDefined": "NP_001124452.1:p.Ile1601Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759756",
      "coordinates": [
        {
          "allele": "G",
          "end": 5302,
          "referenceAllele": "A",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.4864A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ile1622Val",
        "hgvsWellDefined": "NP_001124453.1:p.Ile1622Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761413",
      "coordinates": [
        {
          "allele": "G",
          "end": 4990,
          "referenceAllele": "A",
          "start": 4989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.4846A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ile1616Val",
        "hgvsWellDefined": "NP_001124454.1:p.Ile1616Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763650",
      "coordinates": [
        {
          "allele": "G",
          "end": 4960,
          "referenceAllele": "A",
          "start": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.4816A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ile1606Val",
        "hgvsWellDefined": "NP_001124455.1:p.Ile1606Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765887",
      "coordinates": [
        {
          "allele": "G",
          "end": 4918,
          "referenceAllele": "A",
          "start": 4917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.4774A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ile1592Val",
        "hgvsWellDefined": "NP_001124456.1:p.Ile1592Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768123",
      "coordinates": [
        {
          "allele": "G",
          "end": 4948,
          "referenceAllele": "A",
          "start": 4947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.4804A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ile1602Val",
        "hgvsWellDefined": "NP_001124457.1:p.Ile1602Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770342",
      "coordinates": [
        {
          "allele": "G",
          "end": 4855,
          "referenceAllele": "A",
          "start": 4854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.4711A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ile1571Val",
        "hgvsWellDefined": "NP_001124458.1:p.Ile1571Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468274",
      "coordinates": [
        {
          "allele": "G",
          "end": 5188,
          "referenceAllele": "A",
          "start": 5187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.4750A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ile1584Val",
        "hgvsWellDefined": "NP_003485.1:p.Ile1584Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4750A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4750A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ile1584Val"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ile1584Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}