{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10377969",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649957[alleleid]",
        "alleleId": 649957,
        "preferredName": "NM_004006.3(DMD):c.8903T>C (p.Ile2968Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/651720",
        "RCV": [
          "RCV000807137",
          "RCV001830761"
        ],
        "variationId": 651720
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31496257-A-G",
        "id": "X-31496257-A-G",
        "variant": "X:31496257 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31496257A>G?assembly=hg19",
        "id": "chrX:g.31496257A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31478140A>G?assembly=hg38",
        "id": "chrX:g.31478140A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755061434",
        "rs": 755061434
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31496257-A-G?dataset=gnomad_r2_1",
        "id": "X-31496257-A-G",
        "variant": "X:31496257 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31478140-A-G?dataset=gnomad_r4",
        "id": "X-31478140-A-G",
        "variant": "X:31478140 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31478140,
          "referenceAllele": "A",
          "start": 31478139
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31478140A>G",
        "CM000685.2:g.31478140A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31496257,
          "referenceAllele": "A",
          "start": 31496256
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31496257A>G",
        "CM000685.1:g.31496257A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31406178,
          "referenceAllele": "A",
          "start": 31406177
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31406178A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866470,
          "referenceAllele": "T",
          "start": 1866469
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1866470T>C",
        "LRG_199:g.1866470T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3749,
          "referenceAllele": "T",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.3749T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Ile1250Thr",
        "hgvsWellDefined": "ENSP00000350765.3:p.Ile1250Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Ile508Thr",
        "hgvsWellDefined": "ENSP00000508124.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2368,
          "referenceAllele": "T",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.2368T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2395,
          "referenceAllele": "T",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.2395T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Ile508Thr",
        "hgvsWellDefined": "ENSP00000508037.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "T",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.758T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Ile253Thr",
        "hgvsWellDefined": "ENSP00000340057.4:p.Ile253Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9140,
          "referenceAllele": "T",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ile2968Thr",
        "hgvsWellDefined": "ENSP00000354923.3:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8903T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8903T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ile2968Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ile2968Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5051,
          "referenceAllele": "T",
          "start": 5050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4871T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Ile1624Thr",
        "hgvsWellDefined": "ENSP00000479270.2:p.Ile1624Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Ile508Thr",
        "hgvsWellDefined": "ENSP00000478150.2:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Ile508Thr",
        "hgvsWellDefined": "ENSP00000506386.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2564T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "T",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.716T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Ile239Thr",
        "hgvsWellDefined": "ENSP00000340057.3:p.Ile239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9110,
          "referenceAllele": "T",
          "start": 9109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ile2968Thr",
        "hgvsWellDefined": "ENSP00000354923.3:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1991,
          "referenceAllele": "T",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.1991T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Ile664Thr",
        "hgvsWellDefined": "ENSP00000350765.2:p.Ile664Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Ile508Thr",
        "hgvsWellDefined": "ENSP00000352894.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9086,
          "referenceAllele": "T",
          "start": 9085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8891T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Ile2964Thr",
        "hgvsWellDefined": "ENSP00000367948.2:p.Ile2964Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Ile508Thr",
        "hgvsWellDefined": "ENSP00000367979.3:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Ile508Thr",
        "hgvsWellDefined": "ENSP00000417123.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Ile508Thr",
        "hgvsWellDefined": "ENSP00000444119.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8888,
          "referenceAllele": "T",
          "start": 8887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8888T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Ile2963Thr",
        "hgvsWellDefined": "ENSP00000479270.1:p.Ile2963Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8900,
          "referenceAllele": "T",
          "start": 8899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8900T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Ile2967Thr",
        "hgvsWellDefined": "ENSP00000478150.1:p.Ile2967Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9223,
          "referenceAllele": "T",
          "start": 9222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8879T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Ile2960Thr",
        "hgvsWellDefined": "NP_000100.2:p.Ile2960Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9147,
          "referenceAllele": "T",
          "start": 9146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8903T>C",
        "LRG_199t1:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Ile2968Thr",
        "hgvsWellDefined": "NP_003997.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493615",
      "coordinates": [
        {
          "allele": "C",
          "end": 9154,
          "referenceAllele": "T",
          "start": 9153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8891T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Ile2964Thr",
        "hgvsWellDefined": "NP_004000.1:p.Ile2964Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498780",
      "coordinates": [
        {
          "allele": "C",
          "end": 9237,
          "referenceAllele": "T",
          "start": 9236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8534T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Ile2845Thr",
        "hgvsWellDefined": "NP_004001.1:p.Ile2845Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4925,
          "referenceAllele": "T",
          "start": 4924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4880T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Ile1627Thr",
        "hgvsWellDefined": "NP_004002.2:p.Ile1627Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5068,
          "referenceAllele": "T",
          "start": 5067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4871T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Ile1624Thr",
        "hgvsWellDefined": "NP_004003.1:p.Ile1624Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Ile508Thr",
        "hgvsWellDefined": "NP_004004.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "T",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.716T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Ile239Thr",
        "hgvsWellDefined": "NP_004005.1:p.Ile239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Ile508Thr",
        "hgvsWellDefined": "NP_004011.2:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Ile508Thr",
        "hgvsWellDefined": "NP_004012.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Ile508Thr",
        "hgvsWellDefined": "NP_004013.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Ile508Thr",
        "hgvsWellDefined": "NP_004014.1:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_006724531.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8982,
          "referenceAllele": "T",
          "start": 8981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8879T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ile2960Thr",
        "hgvsWellDefined": "XP_006724532.1:p.Ile2960Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_006724533.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_006724534.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8971,
          "referenceAllele": "T",
          "start": 8970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.8774T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Ile2925Thr",
        "hgvsWellDefined": "XP_006724535.1:p.Ile2925Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8962,
          "referenceAllele": "T",
          "start": 8961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.8765T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Ile2922Thr",
        "hgvsWellDefined": "XP_006724536.1:p.Ile2922Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_006724537.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_006724538.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8977,
          "referenceAllele": "T",
          "start": 8976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.8780T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Ile2927Thr",
        "hgvsWellDefined": "XP_011543769.1:p.Ile2927Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_011543770.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9074,
          "referenceAllele": "T",
          "start": 9073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8879T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ile2960Thr",
        "hgvsWellDefined": "XP_006724532.1:p.Ile2960Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_006724533.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_006724537.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_011543770.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9100,
          "referenceAllele": "T",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Ile2968Thr",
        "hgvsWellDefined": "XP_016884817.1:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3676,
          "referenceAllele": "T",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.3077T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Ile1026Thr",
        "hgvsWellDefined": "XP_016884820.1:p.Ile1026Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074531",
      "coordinates": [
        {
          "allele": "C",
          "end": 9002,
          "referenceAllele": "T",
          "start": 9001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8879T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Ile2960Thr",
        "hgvsWellDefined": "NP_000100.3:p.Ile2960Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487046",
      "coordinates": [
        {
          "allele": "C",
          "end": 9140,
          "referenceAllele": "T",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8903T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Ile2968Thr",
        "hgvsWellDefined": "NP_003997.2:p.Ile2968Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8903T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8903T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ile2968Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ile2968Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500523",
      "coordinates": [
        {
          "allele": "C",
          "end": 4899,
          "referenceAllele": "T",
          "start": 4898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4880T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Ile1627Thr",
        "hgvsWellDefined": "NP_004002.3:p.Ile1627Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503113",
      "coordinates": [
        {
          "allele": "C",
          "end": 5042,
          "referenceAllele": "T",
          "start": 5041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4871T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Ile1624Thr",
        "hgvsWellDefined": "NP_004003.2:p.Ile1624Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509828",
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Ile508Thr",
        "hgvsWellDefined": "NP_004012.2:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002685",
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Ile508Thr",
        "hgvsWellDefined": "NP_004014.2:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504323",
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Ile508Thr",
        "hgvsWellDefined": "NP_004004.2:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505185",
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "T",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.716T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Ile239Thr",
        "hgvsWellDefined": "NP_004005.2:p.Ile239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508698",
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Ile508Thr",
        "hgvsWellDefined": "NP_004011.3:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511009",
      "coordinates": [
        {
          "allele": "C",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1523T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Ile508Thr",
        "hgvsWellDefined": "NP_004013.2:p.Ile508Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}