{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605966",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272327[alleleid]",
        "alleleId": 272327,
        "preferredName": "NM_001130987.2(DYSF):c.6314C>T (p.Ala2105Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288090",
        "RCV": [
          "RCV000282124",
          "RCV001039650"
        ],
        "variationId": 288090
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71909800C>T?assembly=hg19",
        "id": "chr2:g.71909800C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71682670C>T?assembly=hg38",
        "id": "chr2:g.71682670C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886043805",
        "rs": 886043805
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71682670,
          "referenceAllele": "C",
          "start": 71682669
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71682670C>T",
        "CM000664.2:g.71682670C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71909800,
          "referenceAllele": "C",
          "start": 71909799
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71909800C>T",
        "CM000664.1:g.71909800C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71763308,
          "referenceAllele": "C",
          "start": 71763307
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71763308C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234048,
          "referenceAllele": "C",
          "start": 234047
        }
      ],
      "hgvs": [
        "NG_008694.1:g.234048C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3728,
          "referenceAllele": "C",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.3728C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Ala1243Val",
        "hgvsWellDefined": "ENSP00000513536.1:p.Ala1243Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3136,
          "referenceAllele": "C",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.2945C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Ala982Val",
        "hgvsWellDefined": "ENSP00000513537.1:p.Ala982Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3244,
          "referenceAllele": "C",
          "start": 3243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.3053C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Ala1018Val",
        "hgvsWellDefined": "ENSP00000513538.1:p.Ala1018Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6635,
          "referenceAllele": "C",
          "start": 6634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.6197C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ala2066Val",
        "hgvsWellDefined": "ENSP00000258104.3:p.Ala2066Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.6197C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.6197C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ala2066Val"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ala2066Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6458,
          "referenceAllele": "C",
          "start": 6457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.6314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ala2105Val",
        "hgvsWellDefined": "ENSP00000386881.3:p.Ala2105Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.6314C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.6314C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ala2105Val"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ala2105Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6474,
          "referenceAllele": "C",
          "start": 6473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.6197C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Ala2066Val",
        "hgvsWellDefined": "ENSP00000258104.3:p.Ala2066Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6341,
          "referenceAllele": "C",
          "start": 6340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.6200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Ala2067Val",
        "hgvsWellDefined": "ENSP00000377678.2:p.Ala2067Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6404,
          "referenceAllele": "C",
          "start": 6403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.6263C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Ala2088Val",
        "hgvsWellDefined": "ENSP00000386512.1:p.Ala2088Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6588,
          "referenceAllele": "C",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.6311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Ala2104Val",
        "hgvsWellDefined": "ENSP00000386547.3:p.Ala2104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6434,
          "referenceAllele": "C",
          "start": 6433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.6293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Ala2098Val",
        "hgvsWellDefined": "ENSP00000386683.1:p.Ala2098Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6362,
          "referenceAllele": "C",
          "start": 6361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.6221C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Ala2074Val",
        "hgvsWellDefined": "ENSP00000386285.1:p.Ala2074Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6525,
          "referenceAllele": "C",
          "start": 6524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.6248C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Ala2083Val",
        "hgvsWellDefined": "ENSP00000387137.1:p.Ala2083Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6455,
          "referenceAllele": "C",
          "start": 6454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.6314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Ala2105Val",
        "hgvsWellDefined": "ENSP00000386881.3:p.Ala2105Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.6251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Ala2084Val",
        "hgvsWellDefined": "ENSP00000386617.1:p.Ala2084Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6567,
          "referenceAllele": "C",
          "start": 6566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.6290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Ala2097Val",
        "hgvsWellDefined": "ENSP00000407046.2:p.Ala2097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6537,
          "referenceAllele": "C",
          "start": 6536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.6260C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Ala2087Val",
        "hgvsWellDefined": "ENSP00000398305.2:p.Ala2087Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3082,
          "referenceAllele": "C",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.3082C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825696056",
      "coordinates": [
        {
          "allele": "T",
          "end": 6341,
          "referenceAllele": "C",
          "start": 6340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.6200C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ala2067Val",
        "hgvsWellDefined": "NP_001123927.1:p.Ala2067Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748940",
      "coordinates": [
        {
          "allele": "T",
          "end": 6531,
          "referenceAllele": "C",
          "start": 6530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.6155C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ala2052Val",
        "hgvsWellDefined": "NP_001124448.1:p.Ala2052Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751203",
      "coordinates": [
        {
          "allele": "T",
          "end": 6594,
          "referenceAllele": "C",
          "start": 6593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.6218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ala2073Val",
        "hgvsWellDefined": "NP_001124449.1:p.Ala2073Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753467",
      "coordinates": [
        {
          "allele": "T",
          "end": 6636,
          "referenceAllele": "C",
          "start": 6635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.6260C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ala2087Val",
        "hgvsWellDefined": "NP_001124450.1:p.Ala2087Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755741",
      "coordinates": [
        {
          "allele": "T",
          "end": 6666,
          "referenceAllele": "C",
          "start": 6665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.6290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ala2097Val",
        "hgvsWellDefined": "NP_001124451.1:p.Ala2097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825758007",
      "coordinates": [
        {
          "allele": "T",
          "end": 6624,
          "referenceAllele": "C",
          "start": 6623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.6248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ala2083Val",
        "hgvsWellDefined": "NP_001124452.1:p.Ala2083Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825760277",
      "coordinates": [
        {
          "allele": "T",
          "end": 6687,
          "referenceAllele": "C",
          "start": 6686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.6311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ala2104Val",
        "hgvsWellDefined": "NP_001124453.1:p.Ala2104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761934",
      "coordinates": [
        {
          "allele": "T",
          "end": 6434,
          "referenceAllele": "C",
          "start": 6433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.6293C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ala2098Val",
        "hgvsWellDefined": "NP_001124454.1:p.Ala2098Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825764171",
      "coordinates": [
        {
          "allele": "T",
          "end": 6404,
          "referenceAllele": "C",
          "start": 6403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.6263C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ala2088Val",
        "hgvsWellDefined": "NP_001124455.1:p.Ala2088Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766408",
      "coordinates": [
        {
          "allele": "T",
          "end": 6362,
          "referenceAllele": "C",
          "start": 6361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.6221C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ala2074Val",
        "hgvsWellDefined": "NP_001124456.1:p.Ala2074Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768644",
      "coordinates": [
        {
          "allele": "T",
          "end": 6392,
          "referenceAllele": "C",
          "start": 6391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.6251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ala2084Val",
        "hgvsWellDefined": "NP_001124457.1:p.Ala2084Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770862",
      "coordinates": [
        {
          "allele": "T",
          "end": 6299,
          "referenceAllele": "C",
          "start": 6298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.6158C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ala2053Val",
        "hgvsWellDefined": "NP_001124458.1:p.Ala2053Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477850",
      "coordinates": [
        {
          "allele": "T",
          "end": 6455,
          "referenceAllele": "C",
          "start": 6454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.6314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ala2105Val",
        "hgvsWellDefined": "NP_001124459.1:p.Ala2105Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829469230",
      "coordinates": [
        {
          "allele": "T",
          "end": 6573,
          "referenceAllele": "C",
          "start": 6572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.6197C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ala2066Val",
        "hgvsWellDefined": "NP_003485.1:p.Ala2066Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6496,
          "referenceAllele": "C",
          "start": 6495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.6356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ala2119Val",
        "hgvsWellDefined": "XP_005264641.1:p.Ala2119Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7233,
          "referenceAllele": "C",
          "start": 7232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.6353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ala2118Val",
        "hgvsWellDefined": "XP_005264642.1:p.Ala2118Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6512,
          "referenceAllele": "C",
          "start": 6511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.6356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Ala2119Val",
        "hgvsWellDefined": "XP_005264641.1:p.Ala2119Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7198,
          "referenceAllele": "C",
          "start": 7197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.6353C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Ala2118Val",
        "hgvsWellDefined": "XP_005264642.1:p.Ala2118Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477850",
      "coordinates": [
        {
          "allele": "T",
          "end": 6458,
          "referenceAllele": "C",
          "start": 6457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.6314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Ala2105Val",
        "hgvsWellDefined": "NP_001124459.1:p.Ala2105Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.6314C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.6314C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Ala2105Val"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Ala2105Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825696056",
      "coordinates": [
        {
          "allele": "T",
          "end": 6344,
          "referenceAllele": "C",
          "start": 6343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.6200C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Ala2067Val",
        "hgvsWellDefined": "NP_001123927.1:p.Ala2067Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748940",
      "coordinates": [
        {
          "allele": "T",
          "end": 6593,
          "referenceAllele": "C",
          "start": 6592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.6155C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Ala2052Val",
        "hgvsWellDefined": "NP_001124448.1:p.Ala2052Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751203",
      "coordinates": [
        {
          "allele": "T",
          "end": 6656,
          "referenceAllele": "C",
          "start": 6655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.6218C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Ala2073Val",
        "hgvsWellDefined": "NP_001124449.1:p.Ala2073Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753467",
      "coordinates": [
        {
          "allele": "T",
          "end": 6698,
          "referenceAllele": "C",
          "start": 6697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.6260C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Ala2087Val",
        "hgvsWellDefined": "NP_001124450.1:p.Ala2087Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755741",
      "coordinates": [
        {
          "allele": "T",
          "end": 6728,
          "referenceAllele": "C",
          "start": 6727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.6290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Ala2097Val",
        "hgvsWellDefined": "NP_001124451.1:p.Ala2097Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825758007",
      "coordinates": [
        {
          "allele": "T",
          "end": 6686,
          "referenceAllele": "C",
          "start": 6685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.6248C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Ala2083Val",
        "hgvsWellDefined": "NP_001124452.1:p.Ala2083Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825760277",
      "coordinates": [
        {
          "allele": "T",
          "end": 6749,
          "referenceAllele": "C",
          "start": 6748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.6311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Ala2104Val",
        "hgvsWellDefined": "NP_001124453.1:p.Ala2104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761934",
      "coordinates": [
        {
          "allele": "T",
          "end": 6437,
          "referenceAllele": "C",
          "start": 6436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.6293C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Ala2098Val",
        "hgvsWellDefined": "NP_001124454.1:p.Ala2098Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825764171",
      "coordinates": [
        {
          "allele": "T",
          "end": 6407,
          "referenceAllele": "C",
          "start": 6406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.6263C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Ala2088Val",
        "hgvsWellDefined": "NP_001124455.1:p.Ala2088Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766408",
      "coordinates": [
        {
          "allele": "T",
          "end": 6365,
          "referenceAllele": "C",
          "start": 6364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.6221C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Ala2074Val",
        "hgvsWellDefined": "NP_001124456.1:p.Ala2074Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768644",
      "coordinates": [
        {
          "allele": "T",
          "end": 6395,
          "referenceAllele": "C",
          "start": 6394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.6251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Ala2084Val",
        "hgvsWellDefined": "NP_001124457.1:p.Ala2084Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770862",
      "coordinates": [
        {
          "allele": "T",
          "end": 6302,
          "referenceAllele": "C",
          "start": 6301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.6158C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Ala2053Val",
        "hgvsWellDefined": "NP_001124458.1:p.Ala2053Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829469230",
      "coordinates": [
        {
          "allele": "T",
          "end": 6635,
          "referenceAllele": "C",
          "start": 6634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.6197C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Ala2066Val",
        "hgvsWellDefined": "NP_003485.1:p.Ala2066Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.6197C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.6197C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Ala2066Val"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Ala2066Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}