{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10377945",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8958G>A (p.Ala2986=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=756258",
        "active": true,
        "id": "COSM756258"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=756259",
        "active": true,
        "id": "COSM756259"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=756260",
        "active": true,
        "id": "COSM756260"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=756261",
        "active": true,
        "id": "COSM756261"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1151591",
        "active": true,
        "id": "COSM1151591"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488979[alleleid]",
        "alleleId": 488979,
        "preferredName": "NM_004006.3(DMD):c.8958G>A (p.Ala2986=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497555",
        "RCV": [
          "RCV000591694",
          "RCV001084795",
          "RCV001829639",
          "RCV002448829",
          "RCV004543320"
        ],
        "variationId": 497555
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31462724-C-T",
        "id": "X-31462724-C-T",
        "variant": "X:31462724 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31462724C>T?assembly=hg19",
        "id": "chrX:g.31462724C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31444607C>T?assembly=hg38",
        "id": "chrX:g.31444607C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755815057",
        "rs": 755815057
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31462724-C-T?dataset=gnomad_r2_1",
        "id": "X-31462724-C-T",
        "variant": "X:31462724 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31444607-C-T?dataset=gnomad_r3",
        "id": "X-31444607-C-T",
        "variant": "X:31444607 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31444607-C-T?dataset=gnomad_r4",
        "id": "X-31444607-C-T",
        "variant": "X:31444607 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31444607,
          "referenceAllele": "C",
          "start": 31444606
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31444607C>T",
        "CM000685.2:g.31444607C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31462724,
          "referenceAllele": "C",
          "start": 31462723
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31462724C>T",
        "CM000685.1:g.31462724C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31372645,
          "referenceAllele": "C",
          "start": 31372644
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31372645C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1900003,
          "referenceAllele": "G",
          "start": 1900002
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1900003G>A",
        "LRG_199:g.1900003G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3804,
          "referenceAllele": "G",
          "start": 3803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.3804G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Ala1268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2423,
          "referenceAllele": "G",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.2423G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2450,
          "referenceAllele": "G",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.2450G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.813G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Ala271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9195,
          "referenceAllele": "G",
          "start": 9194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8958G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8958G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ala2986="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ala2986="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5106,
          "referenceAllele": "G",
          "start": 5105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4926G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Ala1642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2619G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9165,
          "referenceAllele": "G",
          "start": 9164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2046,
          "referenceAllele": "G",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.2046G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Ala682="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9141,
          "referenceAllele": "G",
          "start": 9140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8946G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Ala2982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8943,
          "referenceAllele": "G",
          "start": 8942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8943G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Ala2981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8955,
          "referenceAllele": "G",
          "start": 8954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8955G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Ala2985="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9278,
          "referenceAllele": "G",
          "start": 9277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Ala2978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9202,
          "referenceAllele": "G",
          "start": 9201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8958G>A",
        "LRG_199t1:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493636",
      "coordinates": [
        {
          "allele": "A",
          "end": 9209,
          "referenceAllele": "G",
          "start": 9208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8946G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Ala2982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498799",
      "coordinates": [
        {
          "allele": "A",
          "end": 9292,
          "referenceAllele": "G",
          "start": 9291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8589G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Ala2863="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4980,
          "referenceAllele": "G",
          "start": 4979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4935G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Ala1645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5123,
          "referenceAllele": "G",
          "start": 5122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Ala1642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9037,
          "referenceAllele": "G",
          "start": 9036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ala2978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9026,
          "referenceAllele": "G",
          "start": 9025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.8829G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Ala2943="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9017,
          "referenceAllele": "G",
          "start": 9016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.8820G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Ala2940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9032,
          "referenceAllele": "G",
          "start": 9031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.8835G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Ala2945="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9129,
          "referenceAllele": "G",
          "start": 9128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8934G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ala2978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9155,
          "referenceAllele": "G",
          "start": 9154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3731,
          "referenceAllele": "G",
          "start": 3730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.3132G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Ala1044="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074550",
      "coordinates": [
        {
          "allele": "A",
          "end": 9057,
          "referenceAllele": "G",
          "start": 9056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8934G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Ala2978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487074",
      "coordinates": [
        {
          "allele": "A",
          "end": 9195,
          "referenceAllele": "G",
          "start": 9194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8958G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Ala2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8958G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8958G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ala2986="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ala2986="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500542",
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "G",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4935G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Ala1645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503132",
      "coordinates": [
        {
          "allele": "A",
          "end": 5097,
          "referenceAllele": "G",
          "start": 5096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4926G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Ala1642="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509848",
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511995",
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504342",
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505204",
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.771G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Ala257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508717",
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511028",
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "G",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1578G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}