{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412666164",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=792329[alleleid]",
        "alleleId": 792329,
        "preferredName": "NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/803859",
        "RCV": [
          "RCV000990644",
          "RCV001263658"
        ],
        "variationId": 803859
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32361354C>T?assembly=hg19",
        "id": "chrX:g.32361354C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32343237C>T?assembly=hg38",
        "id": "chrX:g.32343237C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1603631244",
        "rs": 1603631244
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32343237,
          "referenceAllele": "C",
          "start": 32343236
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32343237C>T",
        "CM000685.2:g.32343237C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32361354,
          "referenceAllele": "C",
          "start": 32361353
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32361354C>T",
        "CM000685.1:g.32361354C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32271275,
          "referenceAllele": "C",
          "start": 32271274
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32271275C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001373,
          "referenceAllele": "G",
          "start": 1001372
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1001373G>A",
        "LRG_199:g.1001373G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.482G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Trp161Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5873,
          "referenceAllele": "G",
          "start": 5872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5636G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5636G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Trp1879Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Trp1879Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "G",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.1604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Trp535Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5843,
          "referenceAllele": "G",
          "start": 5842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5819,
          "referenceAllele": "G",
          "start": 5818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.5624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Trp1875Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 126173,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 126174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-126174G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "referenceAllele": "G",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000493412.1:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417725.1:p.Trp98Ter",
        "hgvsWellDefined": "ENSP00000417725.1:p.Trp98_Asn134delinsTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5624,
          "referenceAllele": "G",
          "start": 5623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.5624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Trp1875Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5636,
          "referenceAllele": "G",
          "start": 5635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5956,
          "referenceAllele": "G",
          "start": 5955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.5612G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Trp1871Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5880,
          "referenceAllele": "G",
          "start": 5879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.5636G>A",
        "LRG_199t1:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5887,
          "referenceAllele": "G",
          "start": 5886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.5624G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Trp1875Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5970,
          "referenceAllele": "G",
          "start": 5969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.5267G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Trp1756Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1658,
          "referenceAllele": "G",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Trp538Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.1604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Trp535Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5715,
          "referenceAllele": "G",
          "start": 5714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.5612G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Trp1871Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5704,
          "referenceAllele": "G",
          "start": 5703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.5507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Trp1836Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5695,
          "referenceAllele": "G",
          "start": 5694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.5498G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Trp1833Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5710,
          "referenceAllele": "G",
          "start": 5709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.5513G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Trp1838Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Trp1879Ter",
        "hgvsWellDefined": "XP_011543771.1:p.Trp1879_Asn1915delinsTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5807,
          "referenceAllele": "G",
          "start": 5806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.5612G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Trp1871Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Trp1879Ter",
        "hgvsWellDefined": "XP_016884818.1:p.Trp1879_Lys2166delinsTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysIleSerGluArgGlnLysLysGlyAsnCysAlaThrLeuLeuSerPheTrpIleSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Trp1879Ter",
        "hgvsWellDefined": "XP_016884819.1:p.Trp1879_Ile2160delinsTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysGluIleAspArgGluLeuGlnLysLysLysGluGluLeuAsnAlaValArgArgGlnAlaGluGlyLeuSerGluAspGlyAlaAlaMetAlaValGluProThrGlnIleGlnLeuSerLysArgTrpArgGluIleGluSerLysPheAlaGlnPheArgArgLeuAsnPheAlaGlnIleHisThrValArgGluGluThrMetMetValMetThrGluAspMetProLeuGluIleSerTyrValProSerThrTyrLeuThrGluIleThrHisValSerGlnAlaLeuLeuGluValGluGlnLeuLeuAsnAlaProAspLeuCysAlaLysAspPheGluAspLeuPheLysGlnGluGluSerLeuLysAsnIleLysAspSerLeuGlnGlnSerSerGlyArgIleAspIleIleHisSerLysLysThrAlaAlaLeuGlnSerAlaThrProValGluArgValLysLeuGlnGluAlaLeuSerGlnLeuAspPheGlnTrpGluLysValAsnLysMetTyrLysAspArgGlnGlyArgPheAspArgSerValGluLysTrpArgArgPheHisTyrAspIleLysIlePheAsnGlnTrpLeuThrGluAlaGluGlnPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5735,
          "referenceAllele": "G",
          "start": 5734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.5612G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Trp1871Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5873,
          "referenceAllele": "G",
          "start": 5872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.5636G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Trp1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5636G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5636G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Trp1879Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Trp1879Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1632,
          "referenceAllele": "G",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.1613G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Trp538Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.1604G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Trp535Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}