{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10378066",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8436T>C (p.Leu2812=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271262[alleleid]",
        "alleleId": 271262,
        "preferredName": "NM_004006.3(DMD):c.8436T>C (p.Leu2812=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287025",
        "RCV": [
          "RCV000725939",
          "RCV001085883",
          "RCV002446524",
          "RCV001828240"
        ],
        "variationId": 287025
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31515016-A-G",
        "id": "X-31515016-A-G",
        "variant": "X:31515016 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31515016A>G?assembly=hg19",
        "id": "chrX:g.31515016A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31496899A>G?assembly=hg38",
        "id": "chrX:g.31496899A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139365076",
        "rs": 139365076
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31515016-A-G?dataset=gnomad_r2_1",
        "id": "X-31515016-A-G",
        "variant": "X:31515016 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31496899-A-G?dataset=gnomad_r3",
        "id": "X-31496899-A-G",
        "variant": "X:31496899 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31496899-A-G?dataset=gnomad_r4",
        "id": "X-31496899-A-G",
        "variant": "X:31496899 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31496899,
          "referenceAllele": "A",
          "start": 31496898
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31496899A>G",
        "CM000685.2:g.31496899A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31515016,
          "referenceAllele": "A",
          "start": 31515015
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31515016A>G",
        "CM000685.1:g.31515016A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31424937,
          "referenceAllele": "A",
          "start": 31424936
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31424937A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1847711,
          "referenceAllele": "T",
          "start": 1847710
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1847711T>C",
        "LRG_199:g.1847711T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3282,
          "referenceAllele": "T",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.3282T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Leu1094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1901,
          "referenceAllele": "T",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.1901T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1928,
          "referenceAllele": "T",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.1928T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "T",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.291T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Leu97="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8673,
          "referenceAllele": "T",
          "start": 8672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8436T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8436T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu2812="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu2812="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4584,
          "referenceAllele": "T",
          "start": 4583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4404T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Leu1468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2097T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "T",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.249T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Leu83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8643,
          "referenceAllele": "T",
          "start": 8642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1524,
          "referenceAllele": "T",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.1524T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Leu508="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8619,
          "referenceAllele": "T",
          "start": 8618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8424T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Leu2808="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "T",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000445312.1:n.493T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8421,
          "referenceAllele": "T",
          "start": 8420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8421T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Leu2807="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8433,
          "referenceAllele": "T",
          "start": 8432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8433T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Leu2811="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8756,
          "referenceAllele": "T",
          "start": 8755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8412T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Leu2804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8680,
          "referenceAllele": "T",
          "start": 8679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8436T>C",
        "LRG_199t1:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493377",
      "coordinates": [
        {
          "allele": "C",
          "end": 8687,
          "referenceAllele": "T",
          "start": 8686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8424T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Leu2808="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498577",
      "coordinates": [
        {
          "allele": "C",
          "end": 8770,
          "referenceAllele": "T",
          "start": 8769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8067T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Leu2689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4458,
          "referenceAllele": "T",
          "start": 4457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4413T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Leu1471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4601,
          "referenceAllele": "T",
          "start": 4600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4404T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Leu1468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 310,
          "referenceAllele": "T",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.249T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Leu83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8515,
          "referenceAllele": "T",
          "start": 8514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8412T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu2804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8504,
          "referenceAllele": "T",
          "start": 8503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.8307T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Leu2769="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8495,
          "referenceAllele": "T",
          "start": 8494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.8298T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Leu2766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8510,
          "referenceAllele": "T",
          "start": 8509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.8313T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Leu2771="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8607,
          "referenceAllele": "T",
          "start": 8606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8412T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu2804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8633,
          "referenceAllele": "T",
          "start": 8632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3209,
          "referenceAllele": "T",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.2610T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Leu870="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074327",
      "coordinates": [
        {
          "allele": "C",
          "end": 8535,
          "referenceAllele": "T",
          "start": 8534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8412T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Leu2804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829486769",
      "coordinates": [
        {
          "allele": "C",
          "end": 8673,
          "referenceAllele": "T",
          "start": 8672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8436T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Leu2812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8436T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8436T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu2812="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu2812="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500320",
      "coordinates": [
        {
          "allele": "C",
          "end": 4432,
          "referenceAllele": "T",
          "start": 4431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4413T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Leu1471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829502910",
      "coordinates": [
        {
          "allele": "C",
          "end": 4575,
          "referenceAllele": "T",
          "start": 4574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4404T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Leu1468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509625",
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511907",
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504119",
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504993",
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "T",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.249T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Leu83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508494",
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829510806",
      "coordinates": [
        {
          "allele": "C",
          "end": 2097,
          "referenceAllele": "T",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1056T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Leu352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}