{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10377634",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.10291G>A (p.Asp3431Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267572[alleleid]",
        "alleleId": 267572,
        "preferredName": "NM_004006.3(DMD):c.10291G>A (p.Asp3431Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283335",
        "RCV": [
          "RCV000341762",
          "RCV003105847",
          "RCV004021131"
        ],
        "variationId": 283335
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31191693-C-T",
        "id": "X-31191693-C-T",
        "variant": "X:31191693 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31191693C>T?assembly=hg19",
        "id": "chrX:g.31191693C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31173576C>T?assembly=hg38",
        "id": "chrX:g.31173576C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776084073",
        "rs": 776084073
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31191693-C-T?dataset=gnomad_r2_1",
        "id": "X-31191693-C-T",
        "variant": "X:31191693 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31173576-C-T?dataset=gnomad_r4",
        "id": "X-31173576-C-T",
        "variant": "X:31173576 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31173576,
          "referenceAllele": "C",
          "start": 31173575
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31173576C>T",
        "CM000685.2:g.31173576C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31191693,
          "referenceAllele": "C",
          "start": 31191692
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31191693C>T",
        "CM000685.1:g.31191693C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31101614,
          "referenceAllele": "C",
          "start": 31101613
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31101614C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171034,
          "referenceAllele": "G",
          "start": 2171033
        }
      ],
      "hgvs": [
        "NG_012232.1:g.2171034G>A",
        "LRG_199:g.2171034G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5098,
          "referenceAllele": "G",
          "start": 5097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.5098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Asp1700Asn",
        "hgvsWellDefined": "ENSP00000350765.3:p.Asp1700Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "endIntronDirection": "-",
          "endIntronOffset": 1162,
          "referenceAllele": "G",
          "start": 1157,
          "startIntronDirection": "-",
          "startIntronOffset": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.2:c.1020-1163G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.2:n.1020-1163G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.2:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.2:p.Asp350Asn",
        "hgvsWellDefined": "ENSP00000506359.2:p.Asp350Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681989.1:n.1089G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.2843+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:n.2843+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "endIntronDirection": "-",
          "endIntronOffset": 1162,
          "referenceAllele": "G",
          "start": 1157,
          "startIntronDirection": "-",
          "startIntronOffset": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682322.1:c.1020-1163G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507690.1:n.1020-1163G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "referenceAllele": "G",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682600.1:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507640.1:p.Asp350Asn",
        "hgvsWellDefined": "ENSP00000507640.1:p.Asp350Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682769.1:n.883G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2106,
          "referenceAllele": "G",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683503.1:n.2106G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683509.1:n.1769G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683675.1:n.1390G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "referenceAllele": "G",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683709.1:n.1770G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3744,
          "referenceAllele": "G",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.3744G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684072.1:n.520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3913,
          "referenceAllele": "G",
          "start": 3912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.2872G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Asp958Asn",
        "hgvsWellDefined": "ENSP00000508037.1:p.Asp958Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2106,
          "referenceAllele": "G",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684350.1:n.2106G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "referenceAllele": "G",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.2146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Asp716Asn",
        "hgvsWellDefined": "ENSP00000340057.4:p.Asp716Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10528,
          "referenceAllele": "G",
          "start": 10527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.10291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asp3431Asn",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asp3431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.10291G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.10291G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp3431Asn"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp3431Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6439,
          "referenceAllele": "G",
          "start": 6438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.6259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Asp2087Asn",
        "hgvsWellDefined": "ENSP00000479270.2:p.Asp2087Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3913,
          "referenceAllele": "G",
          "start": 3912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.2872G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Asp958Asn",
        "hgvsWellDefined": "ENSP00000478150.2:p.Asp958Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679437.1:c.-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506629.1:n.-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 986,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679641.1:c.*225+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506135.1:n.*225+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679706.1:c.180+5093G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4177,
          "referenceAllele": "G",
          "start": 4176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679850.1:n.4177G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.1:c.964G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.1:p.Asp322Asn",
        "hgvsWellDefined": "ENSP00000506634.1:p.Asp322Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 1157,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680355.1:c.1019+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506257.1:n.1019+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 30385,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 30384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680557.1:c.603+30385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505164.1:n.603+30385G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66,
          "referenceAllele": "G",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680701.1:n.66G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.1:c.991G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.1:p.Asp331Asn",
        "hgvsWellDefined": "ENSP00000506359.1:p.Asp331Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3746,
          "referenceAllele": "G",
          "start": 3745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.*254G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:n.*254G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 115,
          "referenceAllele": "G",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681026.1:c.-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506689.1:n.-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1186,
          "referenceAllele": "G",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681153.1:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505124.1:p.Asp350Asn",
        "hgvsWellDefined": "ENSP00000505124.1:p.Asp350Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2165,
          "referenceAllele": "G",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.2104G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Asp702Asn",
        "hgvsWellDefined": "ENSP00000340057.3:p.Asp702Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10498,
          "referenceAllele": "G",
          "start": 10497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.10291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asp3431Asn",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asp3431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3340,
          "referenceAllele": "G",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.3340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Asp1114Asn",
        "hgvsWellDefined": "ENSP00000350765.2:p.Asp1114Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3913,
          "referenceAllele": "G",
          "start": 3912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.2872G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Asp958Asn",
        "hgvsWellDefined": "ENSP00000352894.1:p.Asp958Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1126,
          "referenceAllele": "G",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000361471.8:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354464.4:p.Asp350Asn",
        "hgvsWellDefined": "ENSP00000354464.4:p.Asp350Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10474,
          "referenceAllele": "G",
          "start": 10473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.10279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Asp3427Asn",
        "hgvsWellDefined": "ENSP00000367948.2:p.Asp3427Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1139,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 1139,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378680.6:c.1019+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367951.2:n.1019+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1115,
          "referenceAllele": "G",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378702.8:c.1087G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367974.4:p.Asp363Asn",
        "hgvsWellDefined": "ENSP00000367974.4:p.Asp363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378705.3:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367977.3:p.Asp221Asn",
        "hgvsWellDefined": "ENSP00000367977.3:p.Asp221Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Asp971Asn",
        "hgvsWellDefined": "ENSP00000367979.3:p.Asp971Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378723.7:c.1087G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367997.3:p.Asp363Asn",
        "hgvsWellDefined": "ENSP00000367997.3:p.Asp363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Asp971Asn",
        "hgvsWellDefined": "ENSP00000417123.1:p.Asp971Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.2843+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:n.2843+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10276,
          "referenceAllele": "G",
          "start": 10275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.10276G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Asp3426Asn",
        "hgvsWellDefined": "ENSP00000479270.1:p.Asp3426Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10288,
          "referenceAllele": "G",
          "start": 10287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.10288G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Asp3430Asn",
        "hgvsWellDefined": "ENSP00000478150.1:p.Asp3430Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10611,
          "referenceAllele": "G",
          "start": 10610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.10267G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Asp3423Asn",
        "hgvsWellDefined": "NP_000100.2:p.Asp3423Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645484213",
      "coordinates": [
        {
          "allele": "A",
          "end": 10535,
          "referenceAllele": "G",
          "start": 10534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.10291G>A",
        "LRG_199t1:c.10291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Asp3431Asn",
        "hgvsWellDefined": "NP_003997.1:p.Asp3431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829494151",
      "coordinates": [
        {
          "allele": "A",
          "end": 10542,
          "referenceAllele": "G",
          "start": 10541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.10279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Asp3427Asn",
        "hgvsWellDefined": "NP_004000.1:p.Asp3427Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829499219",
      "coordinates": [
        {
          "allele": "A",
          "end": 10625,
          "referenceAllele": "G",
          "start": 10624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.9922G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Asp3308Asn",
        "hgvsWellDefined": "NP_004001.1:p.Asp3308Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6313,
          "referenceAllele": "G",
          "start": 6312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.6268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Asp2090Asn",
        "hgvsWellDefined": "NP_004002.2:p.Asp2090Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6456,
          "referenceAllele": "G",
          "start": 6455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.6259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Asp2087Asn",
        "hgvsWellDefined": "NP_004003.1:p.Asp2087Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Asp971Asn",
        "hgvsWellDefined": "NP_004004.1:p.Asp971Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2165,
          "referenceAllele": "G",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.2104G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Asp702Asn",
        "hgvsWellDefined": "NP_004005.1:p.Asp702Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506079",
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.2:c.1087G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Asp363Asn",
        "hgvsWellDefined": "NP_004006.1:p.Asp363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506617",
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.2:c.1087G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Asp363Asn",
        "hgvsWellDefined": "NP_004007.1:p.Asp363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507128",
      "coordinates": [
        {
          "allele": "A",
          "end": 1126,
          "referenceAllele": "G",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.2:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Asp350Asn",
        "hgvsWellDefined": "NP_004008.1:p.Asp350Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507644",
      "coordinates": [
        {
          "allele": "A",
          "end": 1126,
          "referenceAllele": "G",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.2:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Asp350Asn",
        "hgvsWellDefined": "NP_004009.1:p.Asp350Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.2843+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:n.2843+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Asp971Asn",
        "hgvsWellDefined": "NP_004012.1:p.Asp971Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3913,
          "referenceAllele": "G",
          "start": 3912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.2872G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Asp958Asn",
        "hgvsWellDefined": "NP_004013.1:p.Asp958Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.2843+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:n.2843+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10488,
          "referenceAllele": "G",
          "start": 10487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.10291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Asp3431Asn",
        "hgvsWellDefined": "XP_006724531.1:p.Asp3431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10370,
          "referenceAllele": "G",
          "start": 10369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.10267G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asp3423Asn",
        "hgvsWellDefined": "XP_006724532.1:p.Asp3423Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10449,
          "referenceAllele": "G",
          "start": 10448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.10252G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asp3418Asn",
        "hgvsWellDefined": "XP_006724533.1:p.Asp3418Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10420,
          "endIntronDirection": "-",
          "endIntronOffset": 1162,
          "referenceAllele": "G",
          "start": 10420,
          "startIntronDirection": "-",
          "startIntronOffset": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.10224-1163G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:n.10224-1163G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10359,
          "referenceAllele": "G",
          "start": 10358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.10162G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Asp3388Asn",
        "hgvsWellDefined": "XP_006724535.1:p.Asp3388Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10350,
          "referenceAllele": "G",
          "start": 10349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.10153G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Asp3385Asn",
        "hgvsWellDefined": "XP_006724536.1:p.Asp3385Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10420,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 10420,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.10223+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:n.10223+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10420,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 10420,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.10223+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:n.10223+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10365,
          "referenceAllele": "G",
          "start": 10364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.10168G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Asp3390Asn",
        "hgvsWellDefined": "XP_011543769.1:p.Asp3390Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10462,
          "referenceAllele": "G",
          "start": 10461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.10267G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asp3423Asn",
        "hgvsWellDefined": "XP_006724532.1:p.Asp3423Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10449,
          "referenceAllele": "G",
          "start": 10448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.10252G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asp3418Asn",
        "hgvsWellDefined": "XP_006724533.1:p.Asp3418Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10420,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 10420,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.10223+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:n.10223+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10449,
          "referenceAllele": "G",
          "start": 10448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.10252G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Asp3418Asn",
        "hgvsWellDefined": "XP_016884817.1:p.Asp3418Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5064,
          "referenceAllele": "G",
          "start": 5063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.4465G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Asp1489Asn",
        "hgvsWellDefined": "XP_016884820.1:p.Asp1489Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074970",
      "coordinates": [
        {
          "allele": "A",
          "end": 10390,
          "referenceAllele": "G",
          "start": 10389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.10267G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Asp3423Asn",
        "hgvsWellDefined": "NP_000100.3:p.Asp3423Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487777",
      "coordinates": [
        {
          "allele": "A",
          "end": 10528,
          "referenceAllele": "G",
          "start": 10527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.10291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Asp3431Asn",
        "hgvsWellDefined": "NP_003997.2:p.Asp3431Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.10291G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.10291G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp3431Asn"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp3431Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500962",
      "coordinates": [
        {
          "allele": "A",
          "end": 6287,
          "referenceAllele": "G",
          "start": 6286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.6268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Asp2090Asn",
        "hgvsWellDefined": "NP_004002.3:p.Asp2090Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503552",
      "coordinates": [
        {
          "allele": "A",
          "end": 6430,
          "referenceAllele": "G",
          "start": 6429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.6259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Asp2087Asn",
        "hgvsWellDefined": "NP_004003.2:p.Asp2087Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506079",
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.3:c.1087G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Asp363Asn",
        "hgvsWellDefined": "NP_004006.1:p.Asp363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506617",
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.3:c.1087G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Asp363Asn",
        "hgvsWellDefined": "NP_004007.1:p.Asp363Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507128",
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.3:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Asp350Asn",
        "hgvsWellDefined": "NP_004008.1:p.Asp350Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507644",
      "coordinates": [
        {
          "allele": "A",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.3:c.1048G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Asp350Asn",
        "hgvsWellDefined": "NP_004009.1:p.Asp350Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002448",
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Asp971Asn",
        "hgvsWellDefined": "NP_004012.2:p.Asp971Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.2843+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:n.2843+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504762",
      "coordinates": [
        {
          "allele": "A",
          "end": 3952,
          "referenceAllele": "G",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.2911G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Asp971Asn",
        "hgvsWellDefined": "NP_004004.2:p.Asp971Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505624",
      "coordinates": [
        {
          "allele": "A",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.2104G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Asp702Asn",
        "hgvsWellDefined": "NP_004005.2:p.Asp702Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 5093,
          "referenceAllele": "G",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.2843+5093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:n.2843+5093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511426",
      "coordinates": [
        {
          "allele": "A",
          "end": 3913,
          "referenceAllele": "G",
          "start": 3912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.2872G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Asp958Asn",
        "hgvsWellDefined": "NP_004013.2:p.Asp958Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}