{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA308394",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1120461",
        "active": true,
        "id": "COSM1120461"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1120463",
        "active": true,
        "id": "COSM1120463"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1120464",
        "active": true,
        "id": "COSM1120464"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198577[alleleid]",
        "alleleId": 198577,
        "preferredName": "NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201749",
        "RCV": [
          "RCV000396354",
          "RCV000469017",
          "RCV000617311",
          "RCV002492828",
          "RCV001835711",
          "RCV004539710",
          "RCV003436975"
        ],
        "variationId": 201749
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32381027-G-A",
        "id": "X-32381027-G-A",
        "variant": "X:32381027 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32381027G>A?assembly=hg19",
        "id": "chrX:g.32381027G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32362910G>A?assembly=hg38",
        "id": "chrX:g.32362910G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147904018",
        "rs": 147904018
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32381027-G-A?dataset=gnomad_r2_1",
        "id": "X-32381027-G-A",
        "variant": "X:32381027 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32362910-G-A?dataset=gnomad_r3",
        "id": "X-32362910-G-A",
        "variant": "X:32362910 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32362910-G-A?dataset=gnomad_r4",
        "id": "X-32362910-G-A",
        "variant": "X:32362910 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32362910,
          "referenceAllele": "G",
          "start": 32362909
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32362910G>A",
        "CM000685.2:g.32362910G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32381027,
          "referenceAllele": "G",
          "start": 32381026
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32381027G>A",
        "CM000685.1:g.32381027G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32290948,
          "referenceAllele": "G",
          "start": 32290947
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32290948G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981700,
          "referenceAllele": "C",
          "start": 981699
        }
      ],
      "hgvs": [
        "NG_012232.1:g.981700C>T",
        "LRG_199:g.981700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49,
          "referenceAllele": "C",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Arg17Cys",
        "hgvsWellDefined": "ENSP00000350765.3:p.Arg17Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5440,
          "referenceAllele": "C",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg1735Cys",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5203C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5203C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg1735Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg1735Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Arg391Cys",
        "hgvsWellDefined": "ENSP00000479270.2:p.Arg391Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5410,
          "referenceAllele": "C",
          "start": 5409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg1735Cys",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5386,
          "referenceAllele": "C",
          "start": 5385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.5191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Arg1731Cys",
        "hgvsWellDefined": "ENSP00000367948.2:p.Arg1731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 145846,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 145847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-145847C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5191,
          "referenceAllele": "C",
          "start": 5190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.5191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Arg1731Cys",
        "hgvsWellDefined": "ENSP00000479270.1:p.Arg1731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5203,
          "referenceAllele": "C",
          "start": 5202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Arg1735Cys",
        "hgvsWellDefined": "ENSP00000478150.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5523,
          "referenceAllele": "C",
          "start": 5522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.5179C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Arg1727Cys",
        "hgvsWellDefined": "NP_000100.2:p.Arg1727Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA308396",
      "coordinates": [
        {
          "allele": "T",
          "end": 5447,
          "referenceAllele": "C",
          "start": 5446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.5203C>T",
        "LRG_199t1:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Arg1735Cys",
        "hgvsWellDefined": "NP_003997.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829491836",
      "coordinates": [
        {
          "allele": "T",
          "end": 5454,
          "referenceAllele": "C",
          "start": 5453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.5191C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Arg1731Cys",
        "hgvsWellDefined": "NP_004000.1:p.Arg1731Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829497348",
      "coordinates": [
        {
          "allele": "T",
          "end": 5537,
          "referenceAllele": "C",
          "start": 5536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.4834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Arg1612Cys",
        "hgvsWellDefined": "NP_004001.1:p.Arg1612Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.1180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Arg394Cys",
        "hgvsWellDefined": "NP_004002.2:p.Arg394Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Arg391Cys",
        "hgvsWellDefined": "NP_004003.1:p.Arg391Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_006724531.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5282,
          "referenceAllele": "C",
          "start": 5281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.5179C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg1727Cys",
        "hgvsWellDefined": "XP_006724532.1:p.Arg1727Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_006724533.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_006724534.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5271,
          "referenceAllele": "C",
          "start": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.5074C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Arg1692Cys",
        "hgvsWellDefined": "XP_006724535.1:p.Arg1692Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_006724536.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_006724537.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_006724538.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_011543769.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_011543770.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_011543771.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5374,
          "referenceAllele": "C",
          "start": 5373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.5179C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg1727Cys",
        "hgvsWellDefined": "XP_006724532.1:p.Arg1727Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_006724533.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_006724537.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_011543770.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_016884817.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_016884818.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5400,
          "referenceAllele": "C",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Arg1735Cys",
        "hgvsWellDefined": "XP_016884819.1:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825073100",
      "coordinates": [
        {
          "allele": "T",
          "end": 5302,
          "referenceAllele": "C",
          "start": 5301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.5179C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg1727Cys",
        "hgvsWellDefined": "NP_000100.3:p.Arg1727Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829484719",
      "coordinates": [
        {
          "allele": "T",
          "end": 5440,
          "referenceAllele": "C",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.5203C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg1735Cys",
        "hgvsWellDefined": "NP_003997.2:p.Arg1735Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5203C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5203C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg1735Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg1735Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916001681",
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.1180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Arg394Cys",
        "hgvsWellDefined": "NP_004002.3:p.Arg394Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829501682",
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Arg391Cys",
        "hgvsWellDefined": "NP_004003.2:p.Arg391Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}