{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10378284",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.7359A>G (p.Glu2453=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=510939[alleleid]",
        "alleleId": 510939,
        "preferredName": "NM_004006.3(DMD):c.7359A>G (p.Glu2453=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/519100",
        "RCV": [
          "RCV000617621",
          "RCV000990618",
          "RCV001165707",
          "RCV001829742"
        ],
        "variationId": 519100
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31792260-T-C",
        "id": "X-31792260-T-C",
        "variant": "X:31792260 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31792260T>C?assembly=hg19",
        "id": "chrX:g.31792260T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31774143T>C?assembly=hg38",
        "id": "chrX:g.31774143T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780283825",
        "rs": 780283825
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31792260-T-C?dataset=gnomad_r2_1",
        "id": "X-31792260-T-C",
        "variant": "X:31792260 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31774143-T-C?dataset=gnomad_r3",
        "id": "X-31774143-T-C",
        "variant": "X:31774143 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31774143-T-C?dataset=gnomad_r4",
        "id": "X-31774143-T-C",
        "variant": "X:31774143 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31774143,
          "referenceAllele": "T",
          "start": 31774142
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31774143T>C",
        "CM000685.2:g.31774143T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31792260,
          "referenceAllele": "T",
          "start": 31792259
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31792260T>C",
        "CM000685.1:g.31792260T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31702181,
          "referenceAllele": "T",
          "start": 31702180
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31702181T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570467,
          "referenceAllele": "A",
          "start": 1570466
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1570467A>G",
        "LRG_199:g.1570467A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "A",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.2205A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Glu735="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683117.1:n.1020A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "referenceAllele": "A",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.942A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683851.1:n.1020A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "A",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.851A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7596,
          "referenceAllele": "A",
          "start": 7595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.7359A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.7359A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Glu2453="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Glu2453="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3507,
          "referenceAllele": "A",
          "start": 3506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.3327A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Glu1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.1020A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 488,
          "referenceAllele": "A",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681839.1:c.348A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505228.1:p.Glu116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7566,
          "referenceAllele": "A",
          "start": 7565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "A",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.447A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Glu149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7542,
          "referenceAllele": "A",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.7347A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Glu2449="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 116,
          "referenceAllele": "A",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000471779.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417075.1:n.116A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7344,
          "referenceAllele": "A",
          "start": 7343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.7344A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Glu2448="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7356,
          "referenceAllele": "A",
          "start": 7355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.7356A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Glu2452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7679,
          "referenceAllele": "A",
          "start": 7678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.7335A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Glu2445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7603,
          "referenceAllele": "A",
          "start": 7602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.7359A>G",
        "LRG_199t1:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829492947",
      "coordinates": [
        {
          "allele": "G",
          "end": 7610,
          "referenceAllele": "A",
          "start": 7609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.7347A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Glu2449="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498201",
      "coordinates": [
        {
          "allele": "G",
          "end": 7693,
          "referenceAllele": "A",
          "start": 7692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.6990A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Glu2330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3381,
          "referenceAllele": "A",
          "start": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.3336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Glu1112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3524,
          "referenceAllele": "A",
          "start": 3523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.3327A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Glu1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7438,
          "referenceAllele": "A",
          "start": 7437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.7335A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Glu2445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7427,
          "referenceAllele": "A",
          "start": 7426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.7230A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Glu2410="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7418,
          "referenceAllele": "A",
          "start": 7417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.7221A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Glu2407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7433,
          "referenceAllele": "A",
          "start": 7432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.7236A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Glu2412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7530,
          "referenceAllele": "A",
          "start": 7529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.7335A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Glu2445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7556,
          "referenceAllele": "A",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2132,
          "referenceAllele": "A",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.1533A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Glu511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825073952",
      "coordinates": [
        {
          "allele": "G",
          "end": 7458,
          "referenceAllele": "A",
          "start": 7457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.7335A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Glu2445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829486335",
      "coordinates": [
        {
          "allele": "G",
          "end": 7596,
          "referenceAllele": "A",
          "start": 7595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.7359A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Glu2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.7359A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.7359A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Glu2453="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Glu2453="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829499944",
      "coordinates": [
        {
          "allele": "G",
          "end": 3355,
          "referenceAllele": "A",
          "start": 3354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.3336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Glu1112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829502534",
      "coordinates": [
        {
          "allele": "G",
          "end": 3498,
          "referenceAllele": "A",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.3327A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Glu1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "A",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.-22A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:n.-22A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}