{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10378140",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488925[alleleid]",
        "alleleId": 488925,
        "preferredName": "NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497501",
        "RCV": [
          "RCV000597484",
          "RCV000853037",
          "RCV001080147",
          "RCV001829638",
          "RCV002420567"
        ],
        "variationId": 497501
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31645924-G-A",
        "id": "X-31645924-G-A",
        "variant": "X:31645924 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31645924G>A?assembly=hg19",
        "id": "chrX:g.31645924G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31627807G>A?assembly=hg38",
        "id": "chrX:g.31627807G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755445214",
        "rs": 755445214
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31645924-G-A?dataset=gnomad_r2_1",
        "id": "X-31645924-G-A",
        "variant": "X:31645924 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31627807-G-A?dataset=gnomad_r3",
        "id": "X-31627807-G-A",
        "variant": "X:31627807 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31627807-G-A?dataset=gnomad_r4",
        "id": "X-31627807-G-A",
        "variant": "X:31627807 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31627807,
          "referenceAllele": "G",
          "start": 31627806
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31627807G>A",
        "CM000685.2:g.31627807G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31645924,
          "referenceAllele": "G",
          "start": 31645923
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31645924G>A",
        "CM000685.1:g.31645924G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31555845,
          "referenceAllele": "G",
          "start": 31555844
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31555845G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1716803,
          "referenceAllele": "C",
          "start": 1716802
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1716803C>T",
        "LRG_199:g.1716803C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.2929C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Pro977Ser",
        "hgvsWellDefined": "ENSP00000350765.3:p.Pro977Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Pro235Ser",
        "hgvsWellDefined": "ENSP00000508124.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.1548C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683851.1:n.1744C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.1575C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Pro235Ser",
        "hgvsWellDefined": "ENSP00000508037.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8320,
          "referenceAllele": "C",
          "start": 8319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Pro2695Ser",
        "hgvsWellDefined": "ENSP00000354923.3:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8083C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8083C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Pro2695Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Pro2695Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4231,
          "referenceAllele": "C",
          "start": 4230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4051C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Pro1351Ser",
        "hgvsWellDefined": "ENSP00000479270.2:p.Pro1351Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Pro235Ser",
        "hgvsWellDefined": "ENSP00000478150.2:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Pro235Ser",
        "hgvsWellDefined": "ENSP00000506386.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.1744C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8290,
          "referenceAllele": "C",
          "start": 8289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Pro2695Ser",
        "hgvsWellDefined": "ENSP00000354923.3:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Pro391Ser",
        "hgvsWellDefined": "ENSP00000350765.2:p.Pro391Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Pro235Ser",
        "hgvsWellDefined": "ENSP00000352894.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8266,
          "referenceAllele": "C",
          "start": 8265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8071C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Pro2691Ser",
        "hgvsWellDefined": "ENSP00000367948.2:p.Pro2691Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Pro235Ser",
        "hgvsWellDefined": "ENSP00000367979.3:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Pro235Ser",
        "hgvsWellDefined": "ENSP00000417123.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Pro235Ser",
        "hgvsWellDefined": "ENSP00000444119.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8068,
          "referenceAllele": "C",
          "start": 8067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8068C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Pro2690Ser",
        "hgvsWellDefined": "ENSP00000479270.1:p.Pro2690Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8080,
          "referenceAllele": "C",
          "start": 8079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8080C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Pro2694Ser",
        "hgvsWellDefined": "ENSP00000478150.1:p.Pro2694Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8403,
          "referenceAllele": "C",
          "start": 8402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Pro2687Ser",
        "hgvsWellDefined": "NP_000100.2:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658813305",
      "coordinates": [
        {
          "allele": "T",
          "end": 8327,
          "referenceAllele": "C",
          "start": 8326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8083C>T",
        "LRG_199t1:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Pro2695Ser",
        "hgvsWellDefined": "NP_003997.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493238",
      "coordinates": [
        {
          "allele": "T",
          "end": 8334,
          "referenceAllele": "C",
          "start": 8333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8071C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Pro2691Ser",
        "hgvsWellDefined": "NP_004000.1:p.Pro2691Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498461",
      "coordinates": [
        {
          "allele": "T",
          "end": 8417,
          "referenceAllele": "C",
          "start": 8416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.7714C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Pro2572Ser",
        "hgvsWellDefined": "NP_004001.1:p.Pro2572Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4105,
          "referenceAllele": "C",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4060C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Pro1354Ser",
        "hgvsWellDefined": "NP_004002.2:p.Pro1354Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4248,
          "referenceAllele": "C",
          "start": 4247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4051C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Pro1351Ser",
        "hgvsWellDefined": "NP_004003.1:p.Pro1351Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Pro235Ser",
        "hgvsWellDefined": "NP_004004.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Pro235Ser",
        "hgvsWellDefined": "NP_004011.2:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Pro235Ser",
        "hgvsWellDefined": "NP_004012.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Pro235Ser",
        "hgvsWellDefined": "NP_004013.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Pro235Ser",
        "hgvsWellDefined": "NP_004014.1:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_006724531.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8162,
          "referenceAllele": "C",
          "start": 8161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Pro2687Ser",
        "hgvsWellDefined": "XP_006724532.1:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_006724533.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_006724534.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8151,
          "referenceAllele": "C",
          "start": 8150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.7954C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Pro2652Ser",
        "hgvsWellDefined": "XP_006724535.1:p.Pro2652Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8142,
          "referenceAllele": "C",
          "start": 8141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.7945C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Pro2649Ser",
        "hgvsWellDefined": "XP_006724536.1:p.Pro2649Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_006724537.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_006724538.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8157,
          "referenceAllele": "C",
          "start": 8156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.7960C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Pro2654Ser",
        "hgvsWellDefined": "XP_011543769.1:p.Pro2654Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_011543770.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8254,
          "referenceAllele": "C",
          "start": 8253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Pro2687Ser",
        "hgvsWellDefined": "XP_006724532.1:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_006724533.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_006724537.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_011543770.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8280,
          "referenceAllele": "C",
          "start": 8279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Pro2695Ser",
        "hgvsWellDefined": "XP_016884817.1:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2856,
          "referenceAllele": "C",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.2257C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Pro753Ser",
        "hgvsWellDefined": "XP_016884820.1:p.Pro753Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074212",
      "coordinates": [
        {
          "allele": "T",
          "end": 8182,
          "referenceAllele": "C",
          "start": 8181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8059C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Pro2687Ser",
        "hgvsWellDefined": "NP_000100.3:p.Pro2687Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084008",
      "coordinates": [
        {
          "allele": "T",
          "end": 8320,
          "referenceAllele": "C",
          "start": 8319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8083C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Pro2695Ser",
        "hgvsWellDefined": "NP_003997.2:p.Pro2695Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8083C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8083C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Pro2695Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Pro2695Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500203",
      "coordinates": [
        {
          "allele": "T",
          "end": 4079,
          "referenceAllele": "C",
          "start": 4078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4060C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Pro1354Ser",
        "hgvsWellDefined": "NP_004002.3:p.Pro1354Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829502794",
      "coordinates": [
        {
          "allele": "T",
          "end": 4222,
          "referenceAllele": "C",
          "start": 4221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4051C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Pro1351Ser",
        "hgvsWellDefined": "NP_004003.2:p.Pro1351Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509509",
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Pro235Ser",
        "hgvsWellDefined": "NP_004012.2:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511810",
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Pro235Ser",
        "hgvsWellDefined": "NP_004014.2:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504003",
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Pro235Ser",
        "hgvsWellDefined": "NP_004004.2:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508379",
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Pro235Ser",
        "hgvsWellDefined": "NP_004011.3:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829510690",
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.703C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Pro235Ser",
        "hgvsWellDefined": "NP_004013.2:p.Pro235Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}