{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706845",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5809513",
        "active": true,
        "id": "COSM5809513"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5809514",
        "active": true,
        "id": "COSM5809514"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=585724[alleleid]",
        "alleleId": 585724,
        "preferredName": "NM_001130987.2(DYSF):c.4038G>A (p.Ala1346=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/594661",
        "RCV": [
          "RCV000730010",
          "RCV001396629"
        ],
        "variationId": 594661
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71838455-G-A",
        "id": "2-71838455-G-A",
        "variant": "2:71838455 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71838455G>A?assembly=hg19",
        "id": "chr2:g.71838455G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71611325G>A?assembly=hg38",
        "id": "chr2:g.71611325G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751571463",
        "rs": 751571463
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71838455-G-A?dataset=gnomad_r2_1",
        "id": "2-71838455-G-A",
        "variant": "2:71838455 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71611325-G-A?dataset=gnomad_r3",
        "id": "2-71611325-G-A",
        "variant": "2:71611325 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71611325-G-A?dataset=gnomad_r4",
        "id": "2-71611325-G-A",
        "variant": "2:71611325 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71611325,
          "referenceAllele": "G",
          "start": 71611324
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71611325G>A",
        "CM000664.2:g.71611325G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71838455,
          "referenceAllele": "G",
          "start": 71838454
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71838455G>A",
        "CM000664.1:g.71838455G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71691963,
          "referenceAllele": "G",
          "start": 71691962
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71691963G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162703,
          "referenceAllele": "G",
          "start": 162702
        }
      ],
      "hgvs": [
        "NG_008694.1:g.162703G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.1452G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Ala484="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Ala223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 818,
          "referenceAllele": "G",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Ala209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4422,
          "referenceAllele": "G",
          "start": 4421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.3984G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ala1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.3984G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.3984G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ala1328="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ala1328="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4182,
          "referenceAllele": "G",
          "start": 4181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.4038G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ala1346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4038G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4038G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ala1346="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ala1346="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4261,
          "referenceAllele": "G",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.3984G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ala1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4128,
          "referenceAllele": "G",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.3987G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Ala1329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4128,
          "referenceAllele": "G",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.3987G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Ala1329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4312,
          "referenceAllele": "G",
          "start": 4311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.4035G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Ala1345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4221,
          "referenceAllele": "G",
          "start": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.4080G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Ala1360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.3945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Ala1315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4312,
          "referenceAllele": "G",
          "start": 4311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.4035G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Ala1345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.4038G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ala1346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.4038G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Ala1346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4354,
          "referenceAllele": "G",
          "start": 4353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Ala1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4261,
          "referenceAllele": "G",
          "start": 4260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.3984G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Ala1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000468173.1:n.220G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000472873.5:n.368G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.869G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000487180.5:n.203G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000494501.5:n.344G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694756",
      "coordinates": [
        {
          "allele": "A",
          "end": 4128,
          "referenceAllele": "G",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.3987G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ala1329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748137",
      "coordinates": [
        {
          "allele": "A",
          "end": 4318,
          "referenceAllele": "G",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.3942G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ala1314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750396",
      "coordinates": [
        {
          "allele": "A",
          "end": 4318,
          "referenceAllele": "G",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.3942G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ala1314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752664",
      "coordinates": [
        {
          "allele": "A",
          "end": 4360,
          "referenceAllele": "G",
          "start": 4359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.3984G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ala1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754940",
      "coordinates": [
        {
          "allele": "A",
          "end": 4453,
          "referenceAllele": "G",
          "start": 4452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ala1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757204",
      "coordinates": [
        {
          "allele": "A",
          "end": 4411,
          "referenceAllele": "G",
          "start": 4410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.4035G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ala1345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759469",
      "coordinates": [
        {
          "allele": "A",
          "end": 4411,
          "referenceAllele": "G",
          "start": 4410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.4035G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ala1345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761226",
      "coordinates": [
        {
          "allele": "A",
          "end": 4221,
          "referenceAllele": "G",
          "start": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.4080G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ala1360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763363",
      "coordinates": [
        {
          "allele": "A",
          "end": 4128,
          "referenceAllele": "G",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.3987G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ala1329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765600",
      "coordinates": [
        {
          "allele": "A",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.3945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ala1315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767842",
      "coordinates": [
        {
          "allele": "A",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.4038G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ala1346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770060",
      "coordinates": [
        {
          "allele": "A",
          "end": 4086,
          "referenceAllele": "G",
          "start": 4085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.3945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ala1315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771775",
      "coordinates": [
        {
          "allele": "A",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.4038G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ala1346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467712",
      "coordinates": [
        {
          "allele": "A",
          "end": 4360,
          "referenceAllele": "G",
          "start": 4359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.3984G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ala1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.4080G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ala1360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4957,
          "referenceAllele": "G",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ala1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4236,
          "referenceAllele": "G",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.4080G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ala1360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4922,
          "referenceAllele": "G",
          "start": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ala1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4238,
          "referenceAllele": "G",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.4238G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825771775",
      "coordinates": [
        {
          "allele": "A",
          "end": 4182,
          "referenceAllele": "G",
          "start": 4181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.4038G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ala1346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4038G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4038G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ala1346="
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ala1346="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825694756",
      "coordinates": [
        {
          "allele": "A",
          "end": 4131,
          "referenceAllele": "G",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.3987G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ala1329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748137",
      "coordinates": [
        {
          "allele": "A",
          "end": 4380,
          "referenceAllele": "G",
          "start": 4379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.3942G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ala1314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750396",
      "coordinates": [
        {
          "allele": "A",
          "end": 4380,
          "referenceAllele": "G",
          "start": 4379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.3942G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ala1314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752664",
      "coordinates": [
        {
          "allele": "A",
          "end": 4422,
          "referenceAllele": "G",
          "start": 4421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.3984G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ala1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825754940",
      "coordinates": [
        {
          "allele": "A",
          "end": 4515,
          "referenceAllele": "G",
          "start": 4514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ala1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757204",
      "coordinates": [
        {
          "allele": "A",
          "end": 4473,
          "referenceAllele": "G",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.4035G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ala1345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759469",
      "coordinates": [
        {
          "allele": "A",
          "end": 4473,
          "referenceAllele": "G",
          "start": 4472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.4035G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ala1345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761226",
      "coordinates": [
        {
          "allele": "A",
          "end": 4224,
          "referenceAllele": "G",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.4080G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ala1360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763363",
      "coordinates": [
        {
          "allele": "A",
          "end": 4131,
          "referenceAllele": "G",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.3987G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ala1329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765600",
      "coordinates": [
        {
          "allele": "A",
          "end": 4089,
          "referenceAllele": "G",
          "start": 4088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.3945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ala1315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825767842",
      "coordinates": [
        {
          "allele": "A",
          "end": 4182,
          "referenceAllele": "G",
          "start": 4181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.4038G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ala1346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770060",
      "coordinates": [
        {
          "allele": "A",
          "end": 4089,
          "referenceAllele": "G",
          "start": 4088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.3945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ala1315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829467712",
      "coordinates": [
        {
          "allele": "A",
          "end": 4422,
          "referenceAllele": "G",
          "start": 4421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.3984G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ala1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.3984G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.3984G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ala1328="
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ala1328="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}