{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10379647",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.2069C>T (p.Thr690Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=650007[alleleid]",
        "alleleId": 650007,
        "preferredName": "NM_004006.3(DMD):c.2069C>T (p.Thr690Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644558",
        "RCV": [
          "RCV000798504",
          "RCV001825571",
          "RCV003144608"
        ],
        "variationId": 644558
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32563375-G-A",
        "id": "X-32563375-G-A",
        "variant": "X:32563375 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32563375G>A?assembly=hg19",
        "id": "chrX:g.32563375G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32545258G>A?assembly=hg38",
        "id": "chrX:g.32545258G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762475657",
        "rs": 762475657
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32563375-G-A?dataset=gnomad_r2_1",
        "id": "X-32563375-G-A",
        "variant": "X:32563375 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32545258-G-A?dataset=gnomad_r3",
        "id": "X-32545258-G-A",
        "variant": "X:32545258 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32545258-G-A?dataset=gnomad_r4",
        "id": "X-32545258-G-A",
        "variant": "X:32545258 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32545258,
          "referenceAllele": "G",
          "start": 32545257
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32545258G>A",
        "CM000685.2:g.32545258G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32563375,
          "referenceAllele": "G",
          "start": 32563374
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32563375G>A",
        "CM000685.1:g.32563375G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32473296,
          "referenceAllele": "G",
          "start": 32473295
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32473296G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799352,
          "referenceAllele": "C",
          "start": 799351
        }
      ],
      "hgvs": [
        "NG_012232.1:g.799352C>T",
        "LRG_199:g.799352C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.2276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.2276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2389,
          "referenceAllele": "C",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.9:c.2045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Thr682Ile",
        "hgvsWellDefined": "ENSP00000288447.4:p.Thr682Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2306,
          "referenceAllele": "C",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Thr690Ile",
        "hgvsWellDefined": "ENSP00000354923.3:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2069C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2069C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Thr690Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Thr690Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.8:c.2045C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Thr682Ile",
        "hgvsWellDefined": "ENSP00000288447.4:p.Thr682Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Thr690Ile",
        "hgvsWellDefined": "ENSP00000354923.3:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2252,
          "referenceAllele": "C",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.2057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Thr686Ile",
        "hgvsWellDefined": "ENSP00000367948.2:p.Thr686Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 180058,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 180059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-180059C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-180059C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 180547,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 180548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-180548C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-180548C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 328194,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 328195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-328195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.2057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Thr686Ile",
        "hgvsWellDefined": "ENSP00000479270.1:p.Thr686Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2069,
          "referenceAllele": "C",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Thr690Ile",
        "hgvsWellDefined": "ENSP00000478150.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2389,
          "referenceAllele": "C",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.2045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Thr682Ile",
        "hgvsWellDefined": "NP_000100.2:p.Thr682Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000329",
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.2069C>T",
        "LRG_199t1:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Thr690Ile",
        "hgvsWellDefined": "NP_003997.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829489910",
      "coordinates": [
        {
          "allele": "T",
          "end": 2320,
          "referenceAllele": "C",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.2057C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Thr686Ile",
        "hgvsWellDefined": "NP_004000.1:p.Thr686Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829495554",
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "referenceAllele": "C",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.1700C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Thr567Ile",
        "hgvsWellDefined": "NP_004001.1:p.Thr567Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_006724531.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2148,
          "referenceAllele": "C",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.2045C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Thr682Ile",
        "hgvsWellDefined": "XP_006724532.1:p.Thr682Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_006724533.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_006724534.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.1940C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Thr647Ile",
        "hgvsWellDefined": "XP_006724535.1:p.Thr647Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_006724536.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_006724537.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_006724538.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_011543769.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_011543770.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_011543771.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2240,
          "referenceAllele": "C",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.2045C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Thr682Ile",
        "hgvsWellDefined": "XP_006724532.1:p.Thr682Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_006724533.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_006724537.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_011543770.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_016884817.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_016884818.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "referenceAllele": "C",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Thr690Ile",
        "hgvsWellDefined": "XP_016884819.1:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825071582",
      "coordinates": [
        {
          "allele": "T",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.2045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Thr682Ile",
        "hgvsWellDefined": "NP_000100.3:p.Thr682Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084090",
      "coordinates": [
        {
          "allele": "T",
          "end": 2306,
          "referenceAllele": "C",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.2069C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Thr690Ile",
        "hgvsWellDefined": "NP_003997.2:p.Thr690Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2069C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2069C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Thr690Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Thr690Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}