{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609174",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=380035[alleleid]",
        "alleleId": 380035,
        "preferredName": "NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/386803",
        "RCV": [
          "RCV000442608",
          "RCV000527267",
          "RCV000786295",
          "RCV002429413"
        ],
        "variationId": 386803
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31164440C>T?assembly=hg19",
        "id": "chrX:g.31164440C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31146323C>T?assembly=hg38",
        "id": "chrX:g.31146323C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057522606",
        "rs": 1057522606
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31164440-C-T?dataset=gnomad_r2_1",
        "id": "X-31164440-C-T",
        "variant": "X:31164440 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31146323-C-T?dataset=gnomad_r3",
        "id": "X-31146323-C-T",
        "variant": "X:31146323 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31146323-C-T?dataset=gnomad_r4",
        "id": "X-31146323-C-T",
        "variant": "X:31146323 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31146323,
          "referenceAllele": "C",
          "start": 31146322
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31146323C>T",
        "CM000685.2:g.31146323C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31164440,
          "referenceAllele": "C",
          "start": 31164439
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31164440C>T",
        "CM000685.1:g.31164440C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31074361,
          "referenceAllele": "C",
          "start": 31074360
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31074361C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2198287,
          "referenceAllele": "G",
          "start": 2198286
        }
      ],
      "hgvs": [
        "NG_012232.1:g.2198287G>A",
        "LRG_199:g.2198287G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5696,
          "referenceAllele": "G",
          "start": 5695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.5696G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Arg1899Gln",
        "hgvsWellDefined": "ENSP00000350765.3:p.Arg1899Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1718,
          "referenceAllele": "G",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.2:c.1580G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.2:p.Arg527Gln",
        "hgvsWellDefined": "ENSP00000506634.2:p.Arg527Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1709,
          "referenceAllele": "G",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.2:c.1586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.2:p.Arg529Gln",
        "hgvsWellDefined": "ENSP00000506359.2:p.Arg529Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681989.1:n.1687G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682207.1:n.1009G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.3179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Arg1060Gln",
        "hgvsWellDefined": "ENSP00000508124.1:p.Arg1060Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1718,
          "referenceAllele": "G",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682322.1:c.1580G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507690.1:p.Arg527Gln",
        "hgvsWellDefined": "ENSP00000507690.1:p.Arg527Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "G",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682600.1:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507640.1:p.Arg549Gln",
        "hgvsWellDefined": "ENSP00000507640.1:p.Arg549Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 279,
          "referenceAllele": "G",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682746.1:n.279G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1481,
          "referenceAllele": "G",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682769.1:n.1481G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2704,
          "referenceAllele": "G",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683503.1:n.2704G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2367,
          "referenceAllele": "G",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683509.1:n.2367G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1988,
          "referenceAllele": "G",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683675.1:n.1988G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "referenceAllele": "G",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683709.1:n.2368G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683995.1:n.1034G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684072.1:n.1118G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684103.1:n.1297G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4511,
          "referenceAllele": "G",
          "start": 4510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.3470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Arg1157Gln",
        "hgvsWellDefined": "ENSP00000508037.1:p.Arg1157Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684247.1:n.361G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1933,
          "referenceAllele": "G",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684342.1:n.1933G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2704,
          "referenceAllele": "G",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684350.1:n.2704G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2946,
          "referenceAllele": "G",
          "start": 2945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.2744G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Arg915Gln",
        "hgvsWellDefined": "ENSP00000340057.4:p.Arg915Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11126,
          "referenceAllele": "G",
          "start": 11125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.10889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg3630Gln",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg3630Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.10889G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.10889G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg3630Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg3630Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7037,
          "referenceAllele": "G",
          "start": 7036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.6857G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Arg2286Gln",
        "hgvsWellDefined": "ENSP00000479270.2:p.Arg2286Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4376,
          "endIntronDirection": "+",
          "endIntronOffset": 995,
          "referenceAllele": "G",
          "start": 4376,
          "startIntronDirection": "+",
          "startIntronOffset": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.3335+995G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:n.3335+995G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679437.1:c.551G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506629.1:p.Arg184Gln",
        "hgvsWellDefined": "ENSP00000506629.1:p.Arg184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679641.1:c.*561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506135.1:n.*561G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679706.1:c.516G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5900,
          "referenceAllele": "G",
          "start": 5899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679850.1:n.5900G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.1:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.1:p.Arg521Gln",
        "hgvsWellDefined": "ENSP00000506634.1:p.Arg521Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "referenceAllele": "G",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680355.1:c.1355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506257.1:p.Arg452Gln",
        "hgvsWellDefined": "ENSP00000506257.1:p.Arg452Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "-",
          "endIntronOffset": 12128,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "-",
          "startIntronOffset": 12129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680557.1:c.604-12129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505164.1:n.604-12129G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680701.1:n.664G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2367,
          "referenceAllele": "G",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.1:c.1589G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.1:p.Arg530Gln",
        "hgvsWellDefined": "ENSP00000506359.1:p.Arg530Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4344,
          "referenceAllele": "G",
          "start": 4343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.*852G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:n.*852G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "G",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681026.1:c.551G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506689.1:p.Arg184Gln",
        "hgvsWellDefined": "ENSP00000506689.1:p.Arg184Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "G",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681153.1:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505124.1:p.Arg549Gln",
        "hgvsWellDefined": "ENSP00000505124.1:p.Arg549Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2763,
          "referenceAllele": "G",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Arg901Gln",
        "hgvsWellDefined": "ENSP00000340057.3:p.Arg901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11096,
          "referenceAllele": "G",
          "start": 11095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.10889G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg3630Gln",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg3630Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3938,
          "referenceAllele": "G",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.3938G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Arg1313Gln",
        "hgvsWellDefined": "ENSP00000350765.2:p.Arg1313Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4511,
          "referenceAllele": "G",
          "start": 4510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.3470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Arg1157Gln",
        "hgvsWellDefined": "ENSP00000352894.1:p.Arg1157Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000361471.8:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354464.4:p.Arg549Gln",
        "hgvsWellDefined": "ENSP00000354464.4:p.Arg549Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11072,
          "referenceAllele": "G",
          "start": 11071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.10877G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Arg3626Gln",
        "hgvsWellDefined": "ENSP00000367948.2:p.Arg3626Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1475,
          "referenceAllele": "G",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378680.6:c.1355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367951.2:p.Arg452Gln",
        "hgvsWellDefined": "ENSP00000367951.2:p.Arg452Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378702.8:c.1685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367974.4:p.Arg562Gln",
        "hgvsWellDefined": "ENSP00000367974.4:p.Arg562Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4550,
          "referenceAllele": "G",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.3509G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Arg1170Gln",
        "hgvsWellDefined": "ENSP00000367979.3:p.Arg1170Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1808,
          "referenceAllele": "G",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378723.7:c.1685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367997.3:p.Arg562Gln",
        "hgvsWellDefined": "ENSP00000367997.3:p.Arg562Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4550,
          "referenceAllele": "G",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.3509G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Arg1170Gln",
        "hgvsWellDefined": "ENSP00000417123.1:p.Arg1170Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 23120,
          "referenceAllele": "G",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 23119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000481143.2:n.114+23120G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.3179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Arg1060Gln",
        "hgvsWellDefined": "ENSP00000444119.1:p.Arg1060Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10874,
          "referenceAllele": "G",
          "start": 10873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.10874G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Arg3625Gln",
        "hgvsWellDefined": "ENSP00000479270.1:p.Arg3625Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10886,
          "referenceAllele": "G",
          "start": 10885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.10886G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Arg3629Gln",
        "hgvsWellDefined": "ENSP00000478150.1:p.Arg3629Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11209,
          "referenceAllele": "G",
          "start": 11208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.10865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Arg3622Gln",
        "hgvsWellDefined": "NP_000100.2:p.Arg3622Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645484261",
      "coordinates": [
        {
          "allele": "A",
          "end": 11133,
          "referenceAllele": "G",
          "start": 11132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.10889G>A",
        "LRG_199t1:c.10889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Arg3630Gln",
        "hgvsWellDefined": "NP_003997.1:p.Arg3630Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829494358",
      "coordinates": [
        {
          "allele": "A",
          "end": 11140,
          "referenceAllele": "G",
          "start": 11139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.10877G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Arg3626Gln",
        "hgvsWellDefined": "NP_004000.1:p.Arg3626Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829499373",
      "coordinates": [
        {
          "allele": "A",
          "end": 11223,
          "referenceAllele": "G",
          "start": 11222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.10520G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Arg3507Gln",
        "hgvsWellDefined": "NP_004001.1:p.Arg3507Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6911,
          "referenceAllele": "G",
          "start": 6910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.6866G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Arg2289Gln",
        "hgvsWellDefined": "NP_004002.2:p.Arg2289Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7054,
          "referenceAllele": "G",
          "start": 7053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.6857G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Arg2286Gln",
        "hgvsWellDefined": "NP_004003.1:p.Arg2286Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4550,
          "referenceAllele": "G",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.3509G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Arg1170Gln",
        "hgvsWellDefined": "NP_004004.1:p.Arg1170Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002319",
      "coordinates": [
        {
          "allele": "A",
          "end": 2763,
          "referenceAllele": "G",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Arg901Gln",
        "hgvsWellDefined": "NP_004005.1:p.Arg901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506233",
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.2:c.1685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Arg562Gln",
        "hgvsWellDefined": "NP_004006.1:p.Arg562Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506771",
      "coordinates": [
        {
          "allele": "A",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.2:c.1685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Arg562Gln",
        "hgvsWellDefined": "NP_004007.1:p.Arg562Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507282",
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.2:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Arg549Gln",
        "hgvsWellDefined": "NP_004008.1:p.Arg549Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507798",
      "coordinates": [
        {
          "allele": "A",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.2:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Arg549Gln",
        "hgvsWellDefined": "NP_004009.1:p.Arg549Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.3179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Arg1060Gln",
        "hgvsWellDefined": "NP_004011.2:p.Arg1060Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4550,
          "referenceAllele": "G",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.3509G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Arg1170Gln",
        "hgvsWellDefined": "NP_004012.1:p.Arg1170Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4511,
          "referenceAllele": "G",
          "start": 4510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.3470G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Arg1157Gln",
        "hgvsWellDefined": "NP_004013.1:p.Arg1157Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.3179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Arg1060Gln",
        "hgvsWellDefined": "NP_004014.1:p.Arg1060Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11086,
          "referenceAllele": "G",
          "start": 11085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.10889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Arg3630Gln",
        "hgvsWellDefined": "XP_006724531.1:p.Arg3630Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10968,
          "referenceAllele": "G",
          "start": 10967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.10865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg3622Gln",
        "hgvsWellDefined": "XP_006724532.1:p.Arg3622Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11047,
          "referenceAllele": "G",
          "start": 11046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.10850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg3617Gln",
        "hgvsWellDefined": "XP_006724533.1:p.Arg3617Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10981,
          "referenceAllele": "G",
          "start": 10980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.10784G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Arg3595Gln",
        "hgvsWellDefined": "XP_006724534.1:p.Arg3595Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10957,
          "referenceAllele": "G",
          "start": 10956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.10760G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Arg3587Gln",
        "hgvsWellDefined": "XP_006724535.1:p.Arg3587Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10948,
          "referenceAllele": "G",
          "start": 10947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.10751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Arg3584Gln",
        "hgvsWellDefined": "XP_006724536.1:p.Arg3584Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10756,
          "referenceAllele": "G",
          "start": 10755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.10559G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg3520Gln",
        "hgvsWellDefined": "XP_006724537.1:p.Arg3520Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10756,
          "referenceAllele": "G",
          "start": 10755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.10559G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Arg3520Gln",
        "hgvsWellDefined": "XP_006724538.1:p.Arg3520Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10963,
          "referenceAllele": "G",
          "start": 10962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.10766G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Arg3589Gln",
        "hgvsWellDefined": "XP_011543769.1:p.Arg3589Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11060,
          "referenceAllele": "G",
          "start": 11059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.10865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg3622Gln",
        "hgvsWellDefined": "XP_006724532.1:p.Arg3622Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11047,
          "referenceAllele": "G",
          "start": 11046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.10850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg3617Gln",
        "hgvsWellDefined": "XP_006724533.1:p.Arg3617Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10756,
          "referenceAllele": "G",
          "start": 10755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.10559G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg3520Gln",
        "hgvsWellDefined": "XP_006724537.1:p.Arg3520Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11047,
          "referenceAllele": "G",
          "start": 11046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.10850G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Arg3617Gln",
        "hgvsWellDefined": "XP_016884817.1:p.Arg3617Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5662,
          "referenceAllele": "G",
          "start": 5661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.5063G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Arg1688Gln",
        "hgvsWellDefined": "XP_016884820.1:p.Arg1688Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075124",
      "coordinates": [
        {
          "allele": "A",
          "end": 10988,
          "referenceAllele": "G",
          "start": 10987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.10865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg3622Gln",
        "hgvsWellDefined": "NP_000100.3:p.Arg3622Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829488026",
      "coordinates": [
        {
          "allele": "A",
          "end": 11126,
          "referenceAllele": "G",
          "start": 11125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.10889G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg3630Gln",
        "hgvsWellDefined": "NP_003997.2:p.Arg3630Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.10889G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.10889G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg3630Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg3630Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829501116",
      "coordinates": [
        {
          "allele": "A",
          "end": 6885,
          "referenceAllele": "G",
          "start": 6884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.6866G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Arg2289Gln",
        "hgvsWellDefined": "NP_004002.3:p.Arg2289Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503706",
      "coordinates": [
        {
          "allele": "A",
          "end": 7028,
          "referenceAllele": "G",
          "start": 7027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.6857G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Arg2286Gln",
        "hgvsWellDefined": "NP_004003.2:p.Arg2286Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506233",
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.3:c.1685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Arg562Gln",
        "hgvsWellDefined": "NP_004006.1:p.Arg562Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506771",
      "coordinates": [
        {
          "allele": "A",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.3:c.1685G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Arg562Gln",
        "hgvsWellDefined": "NP_004007.1:p.Arg562Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507282",
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "G",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.3:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Arg549Gln",
        "hgvsWellDefined": "NP_004008.1:p.Arg549Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507798",
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "G",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.3:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Arg549Gln",
        "hgvsWellDefined": "NP_004009.1:p.Arg549Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829510394",
      "coordinates": [
        {
          "allele": "A",
          "end": 4550,
          "referenceAllele": "G",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.3509G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Arg1170Gln",
        "hgvsWellDefined": "NP_004012.2:p.Arg1170Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829512239",
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.3179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Arg1060Gln",
        "hgvsWellDefined": "NP_004014.2:p.Arg1060Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504916",
      "coordinates": [
        {
          "allele": "A",
          "end": 4550,
          "referenceAllele": "G",
          "start": 4549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.3509G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Arg1170Gln",
        "hgvsWellDefined": "NP_004004.2:p.Arg1170Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084353",
      "coordinates": [
        {
          "allele": "A",
          "end": 2761,
          "referenceAllele": "G",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.2702G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Arg901Gln",
        "hgvsWellDefined": "NP_004005.2:p.Arg901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509211",
      "coordinates": [
        {
          "allele": "A",
          "end": 4220,
          "referenceAllele": "G",
          "start": 4219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.3179G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Arg1060Gln",
        "hgvsWellDefined": "NP_004011.3:p.Arg1060Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511576",
      "coordinates": [
        {
          "allele": "A",
          "end": 4511,
          "referenceAllele": "G",
          "start": 4510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.3470G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Arg1157Gln",
        "hgvsWellDefined": "NP_004013.2:p.Arg1157Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}