{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10377676",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=920009[alleleid]",
        "alleleId": 920009,
        "preferredName": "NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/931167",
        "RCV": [
          "RCV001197492",
          "RCV003621588",
          "RCV002484071"
        ],
        "variationId": 931167
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31196796-T-C",
        "id": "X-31196796-T-C",
        "variant": "X:31196796 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31196796T>C?assembly=hg19",
        "id": "chrX:g.31196796T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31178679T>C?assembly=hg38",
        "id": "chrX:g.31178679T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770516401",
        "rs": 770516401
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31196796-T-C?dataset=gnomad_r2_1",
        "id": "X-31196796-T-C",
        "variant": "X:31196796 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31178679-T-C?dataset=gnomad_r3",
        "id": "X-31178679-T-C",
        "variant": "X:31178679 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31178679-T-C?dataset=gnomad_r4",
        "id": "X-31178679-T-C",
        "variant": "X:31178679 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31178679,
          "referenceAllele": "T",
          "start": 31178678
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31178679T>C",
        "CM000685.2:g.31178679T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31196796,
          "referenceAllele": "T",
          "start": 31196795
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31196796T>C",
        "CM000685.1:g.31196796T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31106717,
          "referenceAllele": "T",
          "start": 31106716
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31106717T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2165931,
          "referenceAllele": "A",
          "start": 2165930
        }
      ],
      "hgvs": [
        "NG_012232.1:g.2165931A>G",
        "LRG_199:g.2165931A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5059,
          "referenceAllele": "A",
          "start": 5058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.5059A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Asn1687Asp",
        "hgvsWellDefined": "ENSP00000350765.3:p.Asn1687Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2560,
          "referenceAllele": "A",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000475732.3:n.2560A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "referenceAllele": "A",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.2:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.2:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000506634.2:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1132,
          "referenceAllele": "A",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.2:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.2:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000506359.2:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681989.1:n.1011A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Asn945Asp",
        "hgvsWellDefined": "ENSP00000508124.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "referenceAllele": "A",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682322.1:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507690.1:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000507690.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "referenceAllele": "A",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682600.1:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507640.1:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000507640.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827590"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682769.1:n.844A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683509.1:n.1730A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1312,
          "referenceAllele": "A",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683675.1:n.1312A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683709.1:n.1731A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3705,
          "referenceAllele": "A",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.3705A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Asn945Asp",
        "hgvsWellDefined": "ENSP00000508037.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2270,
          "referenceAllele": "A",
          "start": 2269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.2068A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Asn690Asp",
        "hgvsWellDefined": "ENSP00000340057.4:p.Asn690Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10450,
          "referenceAllele": "A",
          "start": 10449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asn3405Asp",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.10213A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.10213A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asn3405Asp"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asn3405Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 579,
          "referenceAllele": "A",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000475732.2:n.579A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6361,
          "referenceAllele": "A",
          "start": 6360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.6181A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Asn2061Asp",
        "hgvsWellDefined": "ENSP00000479270.2:p.Asn2061Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Asn945Asp",
        "hgvsWellDefined": "ENSP00000478150.2:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 976,
          "referenceAllele": "A",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679641.1:c.*215A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506135.1:n.*215A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "A",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679706.1:c.170A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.1:c.886A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.1:p.Asn296Asp",
        "hgvsWellDefined": "ENSP00000506634.1:p.Asn296Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "referenceAllele": "A",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680355.1:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506257.1:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000506257.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 25282,
          "referenceAllele": "A",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 25281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680557.1:c.603+25282A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505164.1:n.603+25282A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.1:c.952A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.1:p.Asn318Asp",
        "hgvsWellDefined": "ENSP00000506359.1:p.Asn318Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3707,
          "referenceAllele": "A",
          "start": 3706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.*215A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:n.*215A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "referenceAllele": "A",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681153.1:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505124.1:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000505124.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681654.1:n.1143A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "referenceAllele": "A",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.2026A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Asn676Asp",
        "hgvsWellDefined": "ENSP00000340057.3:p.Asn676Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10420,
          "referenceAllele": "A",
          "start": 10419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asn3405Asp",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3301,
          "referenceAllele": "A",
          "start": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.3301A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Asn1101Asp",
        "hgvsWellDefined": "ENSP00000350765.2:p.Asn1101Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Asn945Asp",
        "hgvsWellDefined": "ENSP00000352894.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000361471.8:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354464.4:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000354464.4:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10396,
          "referenceAllele": "A",
          "start": 10395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.10201A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Asn3401Asp",
        "hgvsWellDefined": "ENSP00000367948.2:p.Asn3401Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1129,
          "referenceAllele": "A",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378680.6:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367951.2:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000367951.2:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378702.8:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367974.4:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000367974.4:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "referenceAllele": "A",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378705.3:c.583A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367977.3:p.Asn195Asp",
        "hgvsWellDefined": "ENSP00000367977.3:p.Asn195Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Asn945Asp",
        "hgvsWellDefined": "ENSP00000367979.3:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1132,
          "referenceAllele": "A",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378723.7:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367997.3:p.Asn337Asp",
        "hgvsWellDefined": "ENSP00000367997.3:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Asn945Asp",
        "hgvsWellDefined": "ENSP00000417123.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "referenceAllele": "A",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000475732.1:n.429A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Asn945Asp",
        "hgvsWellDefined": "ENSP00000444119.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10198,
          "referenceAllele": "A",
          "start": 10197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.10198A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Asn3400Asp",
        "hgvsWellDefined": "ENSP00000479270.1:p.Asn3400Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10210,
          "referenceAllele": "A",
          "start": 10209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.10210A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Asn3404Asp",
        "hgvsWellDefined": "ENSP00000478150.1:p.Asn3404Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10533,
          "referenceAllele": "A",
          "start": 10532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.10189A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Asn3397Asp",
        "hgvsWellDefined": "NP_000100.2:p.Asn3397Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10457,
          "referenceAllele": "A",
          "start": 10456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.10213A>G",
        "LRG_199t1:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Asn3405Asp",
        "hgvsWellDefined": "NP_003997.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829494112",
      "coordinates": [
        {
          "allele": "G",
          "end": 10464,
          "referenceAllele": "A",
          "start": 10463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.10201A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Asn3401Asp",
        "hgvsWellDefined": "NP_004000.1:p.Asn3401Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829499188",
      "coordinates": [
        {
          "allele": "G",
          "end": 10547,
          "referenceAllele": "A",
          "start": 10546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.9844A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Asn3282Asp",
        "hgvsWellDefined": "NP_004001.1:p.Asn3282Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6235,
          "referenceAllele": "A",
          "start": 6234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.6190A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Asn2064Asp",
        "hgvsWellDefined": "NP_004002.2:p.Asn2064Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6378,
          "referenceAllele": "A",
          "start": 6377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.6181A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Asn2061Asp",
        "hgvsWellDefined": "NP_004003.1:p.Asn2061Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Asn945Asp",
        "hgvsWellDefined": "NP_004004.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "referenceAllele": "A",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.2026A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Asn676Asp",
        "hgvsWellDefined": "NP_004005.1:p.Asn676Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506049",
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.2:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004006.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506587",
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.2:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004007.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507119",
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.2:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004008.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507635",
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.2:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004009.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508125",
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "A",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004019.2:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004010.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004010.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Asn945Asp",
        "hgvsWellDefined": "NP_004011.2:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Asn945Asp",
        "hgvsWellDefined": "NP_004012.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Asn945Asp",
        "hgvsWellDefined": "NP_004013.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Asn945Asp",
        "hgvsWellDefined": "NP_004014.1:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10410,
          "referenceAllele": "A",
          "start": 10409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Asn3405Asp",
        "hgvsWellDefined": "XP_006724531.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10292,
          "referenceAllele": "A",
          "start": 10291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.10189A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asn3397Asp",
        "hgvsWellDefined": "XP_006724532.1:p.Asn3397Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10410,
          "referenceAllele": "A",
          "start": 10409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asn3405Asp",
        "hgvsWellDefined": "XP_006724533.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10410,
          "referenceAllele": "A",
          "start": 10409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Asn3405Asp",
        "hgvsWellDefined": "XP_006724534.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10281,
          "referenceAllele": "A",
          "start": 10280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.10084A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Asn3362Asp",
        "hgvsWellDefined": "XP_006724535.1:p.Asn3362Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10272,
          "referenceAllele": "A",
          "start": 10271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.10075A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Asn3359Asp",
        "hgvsWellDefined": "XP_006724536.1:p.Asn3359Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10410,
          "referenceAllele": "A",
          "start": 10409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asn3405Asp",
        "hgvsWellDefined": "XP_006724537.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10410,
          "referenceAllele": "A",
          "start": 10409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Asn3405Asp",
        "hgvsWellDefined": "XP_006724538.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10287,
          "referenceAllele": "A",
          "start": 10286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.10090A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Asn3364Asp",
        "hgvsWellDefined": "XP_011543769.1:p.Asn3364Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10384,
          "referenceAllele": "A",
          "start": 10383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.10189A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asn3397Asp",
        "hgvsWellDefined": "XP_006724532.1:p.Asn3397Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10410,
          "referenceAllele": "A",
          "start": 10409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asn3405Asp",
        "hgvsWellDefined": "XP_006724533.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10410,
          "referenceAllele": "A",
          "start": 10409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asn3405Asp",
        "hgvsWellDefined": "XP_006724537.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10410,
          "referenceAllele": "A",
          "start": 10409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Asn3405Asp",
        "hgvsWellDefined": "XP_016884817.1:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4986,
          "referenceAllele": "A",
          "start": 4985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.4387A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Asn1463Asp",
        "hgvsWellDefined": "XP_016884820.1:p.Asn1463Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074939",
      "coordinates": [
        {
          "allele": "G",
          "end": 10312,
          "referenceAllele": "A",
          "start": 10311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.10189A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Asn3397Asp",
        "hgvsWellDefined": "NP_000100.3:p.Asn3397Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487733",
      "coordinates": [
        {
          "allele": "G",
          "end": 10450,
          "referenceAllele": "A",
          "start": 10449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.10213A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Asn3405Asp",
        "hgvsWellDefined": "NP_003997.2:p.Asn3405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.10213A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.10213A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asn3405Asp"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asn3405Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500931",
      "coordinates": [
        {
          "allele": "G",
          "end": 6209,
          "referenceAllele": "A",
          "start": 6208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.6190A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Asn2064Asp",
        "hgvsWellDefined": "NP_004002.3:p.Asn2064Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503522",
      "coordinates": [
        {
          "allele": "G",
          "end": 6352,
          "referenceAllele": "A",
          "start": 6351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.6181A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Asn2061Asp",
        "hgvsWellDefined": "NP_004003.2:p.Asn2061Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506049",
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "A",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.3:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004006.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506587",
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "A",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.3:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004007.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507119",
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "A",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.3:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004008.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507635",
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "A",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.3:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004009.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508125",
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "A",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004019.3:c.1009A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004010.1:p.Asn337Asp",
        "hgvsWellDefined": "NP_004010.1:p.Asn337Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829510236",
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Asn945Asp",
        "hgvsWellDefined": "NP_004012.2:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139723440",
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Asn945Asp",
        "hgvsWellDefined": "NP_004014.2:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504732",
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Asn945Asp",
        "hgvsWellDefined": "NP_004004.2:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505594",
      "coordinates": [
        {
          "allele": "G",
          "end": 2085,
          "referenceAllele": "A",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.2026A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Asn676Asp",
        "hgvsWellDefined": "NP_004005.2:p.Asn676Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509106",
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Asn945Asp",
        "hgvsWellDefined": "NP_004011.3:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511417",
      "coordinates": [
        {
          "allele": "G",
          "end": 3874,
          "referenceAllele": "A",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.2833A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Asn945Asp",
        "hgvsWellDefined": "NP_004013.2:p.Asn945Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}