{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA49771569",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857699[alleleid]",
        "alleleId": 857699,
        "preferredName": "NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/869485",
        "RCV": [
          "RCV001089584",
          "RCV001862659",
          "RCV003339470"
        ],
        "variationId": 869485
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71753461G>A?assembly=hg19",
        "id": "chr2:g.71753461G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71526331G>A?assembly=hg38",
        "id": "chr2:g.71526331G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778673716",
        "rs": 778673716
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71526331-G-A?dataset=gnomad_r3",
        "id": "2-71526331-G-A",
        "variant": "2:71526331 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-71526331-G-A?dataset=gnomad_r4",
        "id": "2-71526331-G-A",
        "variant": "2:71526331 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71526331,
          "referenceAllele": "G",
          "start": 71526330
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71526331G>A",
        "CM000664.2:g.71526331G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71753461,
          "referenceAllele": "G",
          "start": 71753460
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71753461G>A",
        "CM000664.1:g.71753461G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 71606969,
          "referenceAllele": "G",
          "start": 71606968
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71606969G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77709,
          "referenceAllele": "G",
          "start": 77708
        }
      ],
      "hgvs": [
        "NG_008694.1:g.77709G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Glu389Lys",
        "hgvsWellDefined": "ENSP00000258104.3:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1165G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1165G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu389Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu389Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Glu421Lys",
        "hgvsWellDefined": "ENSP00000386881.3:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1261G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1261G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Glu421Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Glu421Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "G",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Glu389Lys",
        "hgvsWellDefined": "ENSP00000258104.3:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Glu390Lys",
        "hgvsWellDefined": "ENSP00000377678.2:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Glu390Lys",
        "hgvsWellDefined": "ENSP00000386512.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Glu420Lys",
        "hgvsWellDefined": "ENSP00000386547.3:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Glu421Lys",
        "hgvsWellDefined": "ENSP00000386683.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Glu390Lys",
        "hgvsWellDefined": "ENSP00000386285.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Glu420Lys",
        "hgvsWellDefined": "ENSP00000387137.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Glu421Lys",
        "hgvsWellDefined": "ENSP00000386881.3:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Glu421Lys",
        "hgvsWellDefined": "ENSP00000386617.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Glu420Lys",
        "hgvsWellDefined": "ENSP00000407046.2:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1442,
          "referenceAllele": "G",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Glu389Lys",
        "hgvsWellDefined": "ENSP00000398305.2:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825693277",
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Glu390Lys",
        "hgvsWellDefined": "NP_001123927.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747128",
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Glu389Lys",
        "hgvsWellDefined": "NP_001124448.1:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825749388",
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Glu389Lys",
        "hgvsWellDefined": "NP_001124449.1:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751648",
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Glu389Lys",
        "hgvsWellDefined": "NP_001124450.1:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753919",
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Glu420Lys",
        "hgvsWellDefined": "NP_001124451.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756194",
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Glu420Lys",
        "hgvsWellDefined": "NP_001124452.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825758459",
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Glu420Lys",
        "hgvsWellDefined": "NP_001124453.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825760699",
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu421Lys",
        "hgvsWellDefined": "NP_001124454.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762352",
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Glu390Lys",
        "hgvsWellDefined": "NP_001124455.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825764590",
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu390Lys",
        "hgvsWellDefined": "NP_001124456.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766830",
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu421Lys",
        "hgvsWellDefined": "NP_001124457.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769063",
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu390Lys",
        "hgvsWellDefined": "NP_001124458.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139684035",
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Glu421Lys",
        "hgvsWellDefined": "NP_001124459.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829466240",
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu389Lys",
        "hgvsWellDefined": "NP_003485.1:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "referenceAllele": "G",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Glu421Lys",
        "hgvsWellDefined": "XP_005264641.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2138,
          "referenceAllele": "G",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Glu420Lys",
        "hgvsWellDefined": "XP_005264642.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Glu421Lys",
        "hgvsWellDefined": "XP_005264641.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2103,
          "referenceAllele": "G",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Glu420Lys",
        "hgvsWellDefined": "XP_005264642.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.1419G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139684035",
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Glu421Lys",
        "hgvsWellDefined": "NP_001124459.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.1261G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.1261G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Glu421Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Glu421Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825693277",
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Glu390Lys",
        "hgvsWellDefined": "NP_001123927.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825747128",
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Glu389Lys",
        "hgvsWellDefined": "NP_001124448.1:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825749388",
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Glu389Lys",
        "hgvsWellDefined": "NP_001124449.1:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825751648",
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Glu389Lys",
        "hgvsWellDefined": "NP_001124450.1:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825753919",
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "referenceAllele": "G",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Glu420Lys",
        "hgvsWellDefined": "NP_001124451.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825756194",
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "referenceAllele": "G",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Glu420Lys",
        "hgvsWellDefined": "NP_001124452.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825758459",
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "referenceAllele": "G",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.1258G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Glu420Lys",
        "hgvsWellDefined": "NP_001124453.1:p.Glu420Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825760699",
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu421Lys",
        "hgvsWellDefined": "NP_001124454.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825762352",
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Glu390Lys",
        "hgvsWellDefined": "NP_001124455.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825764590",
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu390Lys",
        "hgvsWellDefined": "NP_001124456.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825766830",
      "coordinates": [
        {
          "allele": "A",
          "end": 1405,
          "referenceAllele": "G",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.1261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu421Lys",
        "hgvsWellDefined": "NP_001124457.1:p.Glu421Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825769063",
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.1168G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu390Lys",
        "hgvsWellDefined": "NP_001124458.1:p.Glu390Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829466240",
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu389Lys",
        "hgvsWellDefined": "NP_003485.1:p.Glu389Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.1165G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.1165G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu389Lys"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu389Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}