{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10379488",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378257[alleleid]",
        "alleleId": 378257,
        "preferredName": "NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/382670",
        "RCV": [
          "RCV000445178",
          "RCV000621146",
          "RCV000727237",
          "RCV000820116",
          "RCV001195878"
        ],
        "variationId": 382670
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32509399-A-G",
        "id": "X-32509399-A-G",
        "variant": "X:32509399 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32509399A>G?assembly=hg19",
        "id": "chrX:g.32509399A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32491282A>G?assembly=hg38",
        "id": "chrX:g.32491282A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200872948",
        "rs": 200872948
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32509399-A-G?dataset=gnomad_r2_1",
        "id": "X-32509399-A-G",
        "variant": "X:32509399 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32491282-A-G?dataset=gnomad_r3",
        "id": "X-32491282-A-G",
        "variant": "X:32491282 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32491282-A-G?dataset=gnomad_r4",
        "id": "X-32491282-A-G",
        "variant": "X:32491282 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32491282,
          "referenceAllele": "A",
          "start": 32491281
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32491282A>G",
        "CM000685.2:g.32491282A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32509399,
          "referenceAllele": "A",
          "start": 32509398
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32509399A>G",
        "CM000685.1:g.32509399A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32419320,
          "referenceAllele": "A",
          "start": 32419319
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32419320A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 853328,
          "referenceAllele": "T",
          "start": 853327
        }
      ],
      "hgvs": [
        "NG_012232.1:g.853328T>C",
        "LRG_199:g.853328T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "referenceAllele": "T",
          "start": 2823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.2824T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "referenceAllele": "T",
          "start": 2823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.2824T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2854,
          "referenceAllele": "T",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Cys873Arg",
        "hgvsWellDefined": "ENSP00000354923.3:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2617T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2617T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Cys873Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Cys873Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "referenceAllele": "T",
          "start": 2823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Cys873Arg",
        "hgvsWellDefined": "ENSP00000354923.3:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2800,
          "referenceAllele": "T",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.2605T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Cys869Arg",
        "hgvsWellDefined": "ENSP00000367948.2:p.Cys869Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 126082,
          "referenceAllele": "T",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 126083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-126083T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-126083T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 126571,
          "referenceAllele": "T",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 126572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-126572T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-126572T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 274218,
          "referenceAllele": "T",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 274219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-274219T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2605,
          "referenceAllele": "T",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.2605T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Cys869Arg",
        "hgvsWellDefined": "ENSP00000479270.1:p.Cys869Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2617,
          "referenceAllele": "T",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Cys873Arg",
        "hgvsWellDefined": "ENSP00000478150.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2937,
          "referenceAllele": "T",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.2593T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Cys865Arg",
        "hgvsWellDefined": "NP_000100.2:p.Cys865Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481090",
      "coordinates": [
        {
          "allele": "C",
          "end": 2861,
          "referenceAllele": "T",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.2617T>C",
        "LRG_199t1:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Cys873Arg",
        "hgvsWellDefined": "NP_003997.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829490341",
      "coordinates": [
        {
          "allele": "C",
          "end": 2868,
          "referenceAllele": "T",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.2605T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Cys869Arg",
        "hgvsWellDefined": "NP_004000.1:p.Cys869Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829496041",
      "coordinates": [
        {
          "allele": "C",
          "end": 2951,
          "referenceAllele": "T",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.2248T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Cys750Arg",
        "hgvsWellDefined": "NP_004001.1:p.Cys750Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_006724531.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2696,
          "referenceAllele": "T",
          "start": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.2593T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Cys865Arg",
        "hgvsWellDefined": "XP_006724532.1:p.Cys865Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_006724533.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_006724534.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2685,
          "referenceAllele": "T",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.2488T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Cys830Arg",
        "hgvsWellDefined": "XP_006724535.1:p.Cys830Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_006724536.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_006724537.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_006724538.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_011543769.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_011543770.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_011543771.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2788,
          "referenceAllele": "T",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.2593T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Cys865Arg",
        "hgvsWellDefined": "XP_006724532.1:p.Cys865Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_006724533.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_006724537.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_011543770.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_016884817.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_016884818.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Cys873Arg",
        "hgvsWellDefined": "XP_016884819.1:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825071873",
      "coordinates": [
        {
          "allele": "C",
          "end": 2716,
          "referenceAllele": "T",
          "start": 2715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.2593T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Cys865Arg",
        "hgvsWellDefined": "NP_000100.3:p.Cys865Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573083819",
      "coordinates": [
        {
          "allele": "C",
          "end": 2854,
          "referenceAllele": "T",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.2617T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Cys873Arg",
        "hgvsWellDefined": "NP_003997.2:p.Cys873Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2617T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2617T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Cys873Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Cys873Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}