{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1707164",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272814[alleleid]",
        "alleleId": 272814,
        "preferredName": "NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288577",
        "RCV": [
          "RCV000647992",
          "RCV000726189",
          "RCV001271547"
        ],
        "variationId": 288577
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-71886156-A-G",
        "id": "2-71886156-A-G",
        "variant": "2:71886156 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71886156A>G?assembly=hg19",
        "id": "chr2:g.71886156A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71659026A>G?assembly=hg38",
        "id": "chr2:g.71659026A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/772664716",
        "rs": 772664716
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71886156-A-G?dataset=gnomad_r2_1",
        "id": "2-71886156-A-G",
        "variant": "2:71886156 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71659026-A-G?dataset=gnomad_r3",
        "id": "2-71659026-A-G",
        "variant": "2:71659026 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71659026-A-G?dataset=gnomad_r4",
        "id": "2-71659026-A-G",
        "variant": "2:71659026 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71659026,
          "referenceAllele": "A",
          "start": 71659025
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71659026A>G",
        "CM000664.2:g.71659026A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71886156,
          "referenceAllele": "A",
          "start": 71886155
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71886156A>G",
        "CM000664.1:g.71886156A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71739664,
          "referenceAllele": "A",
          "start": 71739663
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71739664A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210404,
          "referenceAllele": "A",
          "start": 210403
        }
      ],
      "hgvs": [
        "NG_008694.1:g.210404A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2318,
          "referenceAllele": "A",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.2318A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:p.Asn773Ser",
        "hgvsWellDefined": "ENSP00000513536.1:p.Asn773Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1726,
          "referenceAllele": "A",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.1535A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:p.Asn512Ser",
        "hgvsWellDefined": "ENSP00000513537.1:p.Asn512Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "A",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.1643A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:p.Asn548Ser",
        "hgvsWellDefined": "ENSP00000513538.1:p.Asn548Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5225,
          "referenceAllele": "A",
          "start": 5224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.4787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Asn1596Ser",
        "hgvsWellDefined": "ENSP00000258104.3:p.Asn1596Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4787A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4787A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Asn1596Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Asn1596Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5048,
          "referenceAllele": "A",
          "start": 5047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.4904A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Asn1635Ser",
        "hgvsWellDefined": "ENSP00000386881.3:p.Asn1635Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4904A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4904A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Asn1635Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Asn1635Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5064,
          "referenceAllele": "A",
          "start": 5063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.4787A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Asn1596Ser",
        "hgvsWellDefined": "ENSP00000258104.3:p.Asn1596Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4931,
          "referenceAllele": "A",
          "start": 4930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.4790A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Asn1597Ser",
        "hgvsWellDefined": "ENSP00000377678.2:p.Asn1597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4994,
          "referenceAllele": "A",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.4853A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Asn1618Ser",
        "hgvsWellDefined": "ENSP00000386512.1:p.Asn1618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5178,
          "referenceAllele": "A",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.4901A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Asn1634Ser",
        "hgvsWellDefined": "ENSP00000386547.3:p.Asn1634Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5024,
          "referenceAllele": "A",
          "start": 5023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.4883A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Asn1628Ser",
        "hgvsWellDefined": "ENSP00000386683.1:p.Asn1628Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4952,
          "referenceAllele": "A",
          "start": 4951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.4811A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Asn1604Ser",
        "hgvsWellDefined": "ENSP00000386285.1:p.Asn1604Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5115,
          "referenceAllele": "A",
          "start": 5114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.4838A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Asn1613Ser",
        "hgvsWellDefined": "ENSP00000387137.1:p.Asn1613Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5045,
          "referenceAllele": "A",
          "start": 5044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.4904A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Asn1635Ser",
        "hgvsWellDefined": "ENSP00000386881.3:p.Asn1635Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4982,
          "referenceAllele": "A",
          "start": 4981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.4841A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Asn1614Ser",
        "hgvsWellDefined": "ENSP00000386617.1:p.Asn1614Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5157,
          "referenceAllele": "A",
          "start": 5156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.4880A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Asn1627Ser",
        "hgvsWellDefined": "ENSP00000407046.2:p.Asn1627Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5127,
          "referenceAllele": "A",
          "start": 5126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.4850A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Asn1617Ser",
        "hgvsWellDefined": "ENSP00000398305.2:p.Asn1617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1672,
          "referenceAllele": "A",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.1672A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695218",
      "coordinates": [
        {
          "allele": "G",
          "end": 4931,
          "referenceAllele": "A",
          "start": 4930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.4790A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Asn1597Ser",
        "hgvsWellDefined": "NP_001123927.1:p.Asn1597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748432",
      "coordinates": [
        {
          "allele": "G",
          "end": 5121,
          "referenceAllele": "A",
          "start": 5120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.4745A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Asn1582Ser",
        "hgvsWellDefined": "NP_001124448.1:p.Asn1582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750696",
      "coordinates": [
        {
          "allele": "G",
          "end": 5184,
          "referenceAllele": "A",
          "start": 5183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.4808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Asn1603Ser",
        "hgvsWellDefined": "NP_001124449.1:p.Asn1603Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752963",
      "coordinates": [
        {
          "allele": "G",
          "end": 5226,
          "referenceAllele": "A",
          "start": 5225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.4850A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Asn1617Ser",
        "hgvsWellDefined": "NP_001124450.1:p.Asn1617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755234",
      "coordinates": [
        {
          "allele": "G",
          "end": 5256,
          "referenceAllele": "A",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.4880A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Asn1627Ser",
        "hgvsWellDefined": "NP_001124451.1:p.Asn1627Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757499",
      "coordinates": [
        {
          "allele": "G",
          "end": 5214,
          "referenceAllele": "A",
          "start": 5213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.4838A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Asn1613Ser",
        "hgvsWellDefined": "NP_001124452.1:p.Asn1613Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759769",
      "coordinates": [
        {
          "allele": "G",
          "end": 5277,
          "referenceAllele": "A",
          "start": 5276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.4901A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Asn1634Ser",
        "hgvsWellDefined": "NP_001124453.1:p.Asn1634Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761426",
      "coordinates": [
        {
          "allele": "G",
          "end": 5024,
          "referenceAllele": "A",
          "start": 5023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.4883A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Asn1628Ser",
        "hgvsWellDefined": "NP_001124454.1:p.Asn1628Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763663",
      "coordinates": [
        {
          "allele": "G",
          "end": 4994,
          "referenceAllele": "A",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.4853A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Asn1618Ser",
        "hgvsWellDefined": "NP_001124455.1:p.Asn1618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765900",
      "coordinates": [
        {
          "allele": "G",
          "end": 4952,
          "referenceAllele": "A",
          "start": 4951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.4811A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Asn1604Ser",
        "hgvsWellDefined": "NP_001124456.1:p.Asn1604Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768136",
      "coordinates": [
        {
          "allele": "G",
          "end": 4982,
          "referenceAllele": "A",
          "start": 4981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.4841A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Asn1614Ser",
        "hgvsWellDefined": "NP_001124457.1:p.Asn1614Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770355",
      "coordinates": [
        {
          "allele": "G",
          "end": 4889,
          "referenceAllele": "A",
          "start": 4888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.4748A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Asn1583Ser",
        "hgvsWellDefined": "NP_001124458.1:p.Asn1583Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477776",
      "coordinates": [
        {
          "allele": "G",
          "end": 5045,
          "referenceAllele": "A",
          "start": 5044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.4904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Asn1635Ser",
        "hgvsWellDefined": "NP_001124459.1:p.Asn1635Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468298",
      "coordinates": [
        {
          "allele": "G",
          "end": 5163,
          "referenceAllele": "A",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.4787A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Asn1596Ser",
        "hgvsWellDefined": "NP_003485.1:p.Asn1596Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5086,
          "referenceAllele": "A",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.4946A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Asn1649Ser",
        "hgvsWellDefined": "XP_005264641.1:p.Asn1649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5823,
          "referenceAllele": "A",
          "start": 5822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.4943A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Asn1648Ser",
        "hgvsWellDefined": "XP_005264642.1:p.Asn1648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5102,
          "referenceAllele": "A",
          "start": 5101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.4946A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Asn1649Ser",
        "hgvsWellDefined": "XP_005264641.1:p.Asn1649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5788,
          "referenceAllele": "A",
          "start": 5787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.4943A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Asn1648Ser",
        "hgvsWellDefined": "XP_005264642.1:p.Asn1648Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5104,
          "referenceAllele": "A",
          "start": 5103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.5104A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645477776",
      "coordinates": [
        {
          "allele": "G",
          "end": 5048,
          "referenceAllele": "A",
          "start": 5047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.4904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Asn1635Ser",
        "hgvsWellDefined": "NP_001124459.1:p.Asn1635Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.4904A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.4904A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Asn1635Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Asn1635Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825695218",
      "coordinates": [
        {
          "allele": "G",
          "end": 4934,
          "referenceAllele": "A",
          "start": 4933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.4790A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Asn1597Ser",
        "hgvsWellDefined": "NP_001123927.1:p.Asn1597Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825748432",
      "coordinates": [
        {
          "allele": "G",
          "end": 5183,
          "referenceAllele": "A",
          "start": 5182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.4745A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Asn1582Ser",
        "hgvsWellDefined": "NP_001124448.1:p.Asn1582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825750696",
      "coordinates": [
        {
          "allele": "G",
          "end": 5246,
          "referenceAllele": "A",
          "start": 5245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.4808A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Asn1603Ser",
        "hgvsWellDefined": "NP_001124449.1:p.Asn1603Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825752963",
      "coordinates": [
        {
          "allele": "G",
          "end": 5288,
          "referenceAllele": "A",
          "start": 5287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.4850A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Asn1617Ser",
        "hgvsWellDefined": "NP_001124450.1:p.Asn1617Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825755234",
      "coordinates": [
        {
          "allele": "G",
          "end": 5318,
          "referenceAllele": "A",
          "start": 5317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.4880A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Asn1627Ser",
        "hgvsWellDefined": "NP_001124451.1:p.Asn1627Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825757499",
      "coordinates": [
        {
          "allele": "G",
          "end": 5276,
          "referenceAllele": "A",
          "start": 5275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.4838A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Asn1613Ser",
        "hgvsWellDefined": "NP_001124452.1:p.Asn1613Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825759769",
      "coordinates": [
        {
          "allele": "G",
          "end": 5339,
          "referenceAllele": "A",
          "start": 5338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.4901A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Asn1634Ser",
        "hgvsWellDefined": "NP_001124453.1:p.Asn1634Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825761426",
      "coordinates": [
        {
          "allele": "G",
          "end": 5027,
          "referenceAllele": "A",
          "start": 5026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.4883A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Asn1628Ser",
        "hgvsWellDefined": "NP_001124454.1:p.Asn1628Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825763663",
      "coordinates": [
        {
          "allele": "G",
          "end": 4997,
          "referenceAllele": "A",
          "start": 4996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.4853A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Asn1618Ser",
        "hgvsWellDefined": "NP_001124455.1:p.Asn1618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825765900",
      "coordinates": [
        {
          "allele": "G",
          "end": 4955,
          "referenceAllele": "A",
          "start": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.4811A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Asn1604Ser",
        "hgvsWellDefined": "NP_001124456.1:p.Asn1604Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825768136",
      "coordinates": [
        {
          "allele": "G",
          "end": 4985,
          "referenceAllele": "A",
          "start": 4984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.4841A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Asn1614Ser",
        "hgvsWellDefined": "NP_001124457.1:p.Asn1614Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825770355",
      "coordinates": [
        {
          "allele": "G",
          "end": 4892,
          "referenceAllele": "A",
          "start": 4891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.4748A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Asn1583Ser",
        "hgvsWellDefined": "NP_001124458.1:p.Asn1583Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468298",
      "coordinates": [
        {
          "allele": "G",
          "end": 5225,
          "referenceAllele": "A",
          "start": 5224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.4787A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Asn1596Ser",
        "hgvsWellDefined": "NP_003485.1:p.Asn1596Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4787A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4787A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Asn1596Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Asn1596Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}