{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10378025",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8643A>G (p.Leu2881=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=471466[alleleid]",
        "alleleId": 471466,
        "preferredName": "NM_004006.3(DMD):c.8643A>G (p.Leu2881=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/455938",
        "RCV": [
          "RCV000593600",
          "RCV001834737",
          "RCV001087437",
          "RCV002376996"
        ],
        "variationId": 455938
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31497125-T-C",
        "id": "X-31497125-T-C",
        "variant": "X:31497125 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31497125T>C?assembly=hg19",
        "id": "chrX:g.31497125T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31479008T>C?assembly=hg38",
        "id": "chrX:g.31479008T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747605156",
        "rs": 747605156
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31497125-T-C?dataset=gnomad_r2_1",
        "id": "X-31497125-T-C",
        "variant": "X:31497125 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31479008-T-C?dataset=gnomad_r3",
        "id": "X-31479008-T-C",
        "variant": "X:31479008 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31479008-T-C?dataset=gnomad_r4",
        "id": "X-31479008-T-C",
        "variant": "X:31479008 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31479008,
          "referenceAllele": "T",
          "start": 31479007
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31479008T>C",
        "CM000685.2:g.31479008T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31497125,
          "referenceAllele": "T",
          "start": 31497124
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31497125T>C",
        "CM000685.1:g.31497125T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31407046,
          "referenceAllele": "T",
          "start": 31407045
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31407046T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1865602,
          "referenceAllele": "A",
          "start": 1865601
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1865602A>G",
        "LRG_199:g.1865602A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3489,
          "referenceAllele": "A",
          "start": 3488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.3489A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Leu1163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2108,
          "referenceAllele": "A",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.2108A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "A",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.2135A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.498A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Leu166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8880,
          "referenceAllele": "A",
          "start": 8879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8643A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8643A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu2881="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu2881="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4791,
          "referenceAllele": "A",
          "start": 4790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4611A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Leu1537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2304A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "referenceAllele": "A",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Leu152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8850,
          "referenceAllele": "A",
          "start": 8849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.1731A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Leu577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8826,
          "referenceAllele": "A",
          "start": 8825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8631A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Leu2877="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000445312.1:n.700A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8628,
          "referenceAllele": "A",
          "start": 8627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8628A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Leu2876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8640,
          "referenceAllele": "A",
          "start": 8639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8640A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Leu2880="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8963,
          "referenceAllele": "A",
          "start": 8962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8619A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Leu2873="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8887,
          "referenceAllele": "A",
          "start": 8886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8643A>G",
        "LRG_199t1:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493468",
      "coordinates": [
        {
          "allele": "G",
          "end": 8894,
          "referenceAllele": "A",
          "start": 8893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8631A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Leu2877="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498656",
      "coordinates": [
        {
          "allele": "G",
          "end": 8977,
          "referenceAllele": "A",
          "start": 8976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8274A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Leu2758="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4665,
          "referenceAllele": "A",
          "start": 4664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4620A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Leu1540="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4808,
          "referenceAllele": "A",
          "start": 4807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4611A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Leu1537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "referenceAllele": "A",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Leu152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8722,
          "referenceAllele": "A",
          "start": 8721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8619A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu2873="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8711,
          "referenceAllele": "A",
          "start": 8710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.8514A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Leu2838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8702,
          "referenceAllele": "A",
          "start": 8701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.8505A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Leu2835="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8717,
          "referenceAllele": "A",
          "start": 8716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.8520A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Leu2840="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8814,
          "referenceAllele": "A",
          "start": 8813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8619A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu2873="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8840,
          "referenceAllele": "A",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3416,
          "referenceAllele": "A",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.2817A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Leu939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074407",
      "coordinates": [
        {
          "allele": "G",
          "end": 8742,
          "referenceAllele": "A",
          "start": 8741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8619A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Leu2873="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829486871",
      "coordinates": [
        {
          "allele": "G",
          "end": 8880,
          "referenceAllele": "A",
          "start": 8879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8643A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Leu2881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8643A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8643A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu2881="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu2881="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500399",
      "coordinates": [
        {
          "allele": "G",
          "end": 4639,
          "referenceAllele": "A",
          "start": 4638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4620A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Leu1540="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829502989",
      "coordinates": [
        {
          "allele": "G",
          "end": 4782,
          "referenceAllele": "A",
          "start": 4781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4611A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Leu1537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509704",
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511946",
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504199",
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505061",
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Leu152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508574",
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829510885",
      "coordinates": [
        {
          "allele": "G",
          "end": 2304,
          "referenceAllele": "A",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Leu421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}