{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412650856",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=471851[alleleid]",
        "alleleId": 471851,
        "preferredName": "NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/455945",
        "RCV": [
          "RCV000554971",
          "RCV000788497",
          "RCV001834740",
          "RCV002377000",
          "RCV002470903",
          "RCV003470720"
        ],
        "variationId": 455945
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31241187C>T?assembly=hg19",
        "id": "chrX:g.31241187C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31223070C>T?assembly=hg38",
        "id": "chrX:g.31223070C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1556320083",
        "rs": 1556320083
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31223070-C-T?dataset=gnomad_r4",
        "id": "X-31223070-C-T",
        "variant": "X:31223070 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31223070,
          "referenceAllele": "C",
          "start": 31223069
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31223070C>T",
        "CM000685.2:g.31223070C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31241187,
          "referenceAllele": "C",
          "start": 31241186
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31241187C>T",
        "CM000685.1:g.31241187C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31151108,
          "referenceAllele": "C",
          "start": 31151107
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31151108C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2121540,
          "referenceAllele": "G",
          "start": 2121539
        }
      ],
      "hgvs": [
        "NG_012232.1:g.2121540G>A",
        "LRG_199:g.2121540G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4184,
          "referenceAllele": "G",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.4184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Arg1395Gln",
        "hgvsWellDefined": "ENSP00000350765.3:p.Arg1395Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.2:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000506634.2:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.2:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000506359.2:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681989.1:n.136G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Arg653Gln",
        "hgvsWellDefined": "ENSP00000508124.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682322.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507690.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000507690.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682600.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507640.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000507640.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682769.1:n.136G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683509.1:n.855G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683675.1:n.437G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683709.1:n.856G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2830,
          "referenceAllele": "G",
          "start": 2829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.2830G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Arg653Gln",
        "hgvsWellDefined": "ENSP00000508037.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1395,
          "referenceAllele": "G",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.1193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Arg398Gln",
        "hgvsWellDefined": "ENSP00000340057.4:p.Arg398Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9575,
          "referenceAllele": "G",
          "start": 9574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg3113Gln",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.9338G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.9338G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg3113Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg3113Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.5306G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Arg1769Gln",
        "hgvsWellDefined": "ENSP00000479270.2:p.Arg1769Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Arg653Gln",
        "hgvsWellDefined": "ENSP00000478150.2:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "referenceAllele": "G",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679641.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506135.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000506135.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.1:c.11G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.1:p.Arg4Gln",
        "hgvsWellDefined": "ENSP00000506634.1:p.Arg4Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680355.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506257.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000506257.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 253,
          "referenceAllele": "G",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680557.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505164.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000505164.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.1:c.77G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.1:p.Arg26Gln",
        "hgvsWellDefined": "ENSP00000506359.1:p.Arg26Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Arg653Gln",
        "hgvsWellDefined": "ENSP00000506386.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681153.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505124.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000505124.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681334.1:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506066.1:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000506066.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2999G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "referenceAllele": "G",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681654.1:n.268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Arg384Gln",
        "hgvsWellDefined": "ENSP00000340057.3:p.Arg384Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9545,
          "referenceAllele": "G",
          "start": 9544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg3113Gln",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2426,
          "referenceAllele": "G",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.2426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Arg809Gln",
        "hgvsWellDefined": "ENSP00000350765.2:p.Arg809Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Arg653Gln",
        "hgvsWellDefined": "ENSP00000352894.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000361471.8:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354464.4:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000354464.4:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9521,
          "referenceAllele": "G",
          "start": 9520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.9326G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Arg3109Gln",
        "hgvsWellDefined": "ENSP00000367948.2:p.Arg3109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 254,
          "referenceAllele": "G",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378680.6:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367951.2:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000367951.2:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162,
          "referenceAllele": "G",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378702.8:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367974.4:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000367974.4:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Arg653Gln",
        "hgvsWellDefined": "ENSP00000367979.3:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378723.7:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367997.3:p.Arg45Gln",
        "hgvsWellDefined": "ENSP00000367997.3:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000469142.1:n.357G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Arg653Gln",
        "hgvsWellDefined": "ENSP00000417123.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Arg653Gln",
        "hgvsWellDefined": "ENSP00000444119.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9323,
          "referenceAllele": "G",
          "start": 9322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.9323G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Arg3108Gln",
        "hgvsWellDefined": "ENSP00000479270.1:p.Arg3108Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9335,
          "referenceAllele": "G",
          "start": 9334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.9335G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Arg3112Gln",
        "hgvsWellDefined": "ENSP00000478150.1:p.Arg3112Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9658,
          "referenceAllele": "G",
          "start": 9657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.9314G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Arg3105Gln",
        "hgvsWellDefined": "NP_000100.2:p.Arg3105Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658675353",
      "coordinates": [
        {
          "allele": "A",
          "end": 9582,
          "referenceAllele": "G",
          "start": 9581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.9338G>A",
        "LRG_199t1:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Arg3113Gln",
        "hgvsWellDefined": "NP_003997.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493778",
      "coordinates": [
        {
          "allele": "A",
          "end": 9589,
          "referenceAllele": "G",
          "start": 9588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.9326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Arg3109Gln",
        "hgvsWellDefined": "NP_004000.1:p.Arg3109Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498915",
      "coordinates": [
        {
          "allele": "A",
          "end": 9672,
          "referenceAllele": "G",
          "start": 9671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Arg2990Gln",
        "hgvsWellDefined": "NP_004001.1:p.Arg2990Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5360,
          "referenceAllele": "G",
          "start": 5359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.5315G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Arg1772Gln",
        "hgvsWellDefined": "NP_004002.2:p.Arg1772Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5503,
          "referenceAllele": "G",
          "start": 5502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.5306G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Arg1769Gln",
        "hgvsWellDefined": "NP_004003.1:p.Arg1769Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Arg653Gln",
        "hgvsWellDefined": "NP_004004.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Arg384Gln",
        "hgvsWellDefined": "NP_004005.1:p.Arg384Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505773",
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004006.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506313",
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004007.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506844",
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004008.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507360",
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004009.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507874",
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004019.2:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004010.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004010.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Arg653Gln",
        "hgvsWellDefined": "NP_004011.2:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Arg653Gln",
        "hgvsWellDefined": "NP_004012.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Arg653Gln",
        "hgvsWellDefined": "NP_004013.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Arg653Gln",
        "hgvsWellDefined": "NP_004014.1:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_006724531.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9417,
          "referenceAllele": "G",
          "start": 9416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.9314G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg3105Gln",
        "hgvsWellDefined": "XP_006724532.1:p.Arg3105Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_006724533.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_006724534.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9406,
          "referenceAllele": "G",
          "start": 9405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.9209G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Arg3070Gln",
        "hgvsWellDefined": "XP_006724535.1:p.Arg3070Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9397,
          "referenceAllele": "G",
          "start": 9396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.9200G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Arg3067Gln",
        "hgvsWellDefined": "XP_006724536.1:p.Arg3067Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_006724537.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_006724538.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9412,
          "referenceAllele": "G",
          "start": 9411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.9215G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Arg3072Gln",
        "hgvsWellDefined": "XP_011543769.1:p.Arg3072Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_011543770.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9509,
          "referenceAllele": "G",
          "start": 9508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.9314G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg3105Gln",
        "hgvsWellDefined": "XP_006724532.1:p.Arg3105Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_006724533.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_006724537.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_011543770.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9535,
          "referenceAllele": "G",
          "start": 9534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Arg3113Gln",
        "hgvsWellDefined": "XP_016884817.1:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4111,
          "referenceAllele": "G",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.3512G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Arg1171Gln",
        "hgvsWellDefined": "XP_016884820.1:p.Arg1171Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074665",
      "coordinates": [
        {
          "allele": "A",
          "end": 9437,
          "referenceAllele": "G",
          "start": 9436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.9314G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg3105Gln",
        "hgvsWellDefined": "NP_000100.3:p.Arg3105Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487310",
      "coordinates": [
        {
          "allele": "A",
          "end": 9575,
          "referenceAllele": "G",
          "start": 9574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.9338G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg3113Gln",
        "hgvsWellDefined": "NP_003997.2:p.Arg3113Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.9338G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.9338G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg3113Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg3113Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500656",
      "coordinates": [
        {
          "allele": "A",
          "end": 5334,
          "referenceAllele": "G",
          "start": 5333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.5315G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Arg1772Gln",
        "hgvsWellDefined": "NP_004002.3:p.Arg1772Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503246",
      "coordinates": [
        {
          "allele": "A",
          "end": 5477,
          "referenceAllele": "G",
          "start": 5476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.5306G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Arg1769Gln",
        "hgvsWellDefined": "NP_004003.2:p.Arg1769Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505773",
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.3:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004006.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506313",
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.3:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004007.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506844",
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.3:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004008.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507360",
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.3:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004009.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507874",
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004019.3:c.134G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004010.1:p.Arg45Gln",
        "hgvsWellDefined": "NP_004010.1:p.Arg45Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509963",
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Arg653Gln",
        "hgvsWellDefined": "NP_004012.2:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002759",
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Arg653Gln",
        "hgvsWellDefined": "NP_004014.2:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504456",
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Arg653Gln",
        "hgvsWellDefined": "NP_004004.2:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505320",
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Arg384Gln",
        "hgvsWellDefined": "NP_004005.2:p.Arg384Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508831",
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Arg653Gln",
        "hgvsWellDefined": "NP_004011.3:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511142",
      "coordinates": [
        {
          "allele": "A",
          "end": 2999,
          "referenceAllele": "G",
          "start": 2998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Arg653Gln",
        "hgvsWellDefined": "NP_004013.2:p.Arg653Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}