{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA222513",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100706[alleleid]",
        "alleleId": 100706,
        "preferredName": "NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94806",
        "RCV": [
          "RCV000630546",
          "RCV001826763",
          "RCV003144127",
          "RCV003162512",
          "RCV002504994"
        ],
        "variationId": 94806
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31515053-A-G",
        "id": "X-31515053-A-G",
        "variant": "X:31515053 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31515053A>G?assembly=hg19",
        "id": "chrX:g.31515053A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31496936A>G?assembly=hg38",
        "id": "chrX:g.31496936A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124071",
        "rs": 398124071
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31515053-A-G?dataset=gnomad_r2_1",
        "id": "X-31515053-A-G",
        "variant": "X:31515053 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31496936-A-G?dataset=gnomad_r3",
        "id": "X-31496936-A-G",
        "variant": "X:31496936 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31496936-A-G?dataset=gnomad_r4",
        "id": "X-31496936-A-G",
        "variant": "X:31496936 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31496936,
          "referenceAllele": "A",
          "start": 31496935
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31496936A>G",
        "CM000685.2:g.31496936A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31515053,
          "referenceAllele": "A",
          "start": 31515052
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31515053A>G",
        "CM000685.1:g.31515053A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31424974,
          "referenceAllele": "A",
          "start": 31424973
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31424974A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1847674,
          "referenceAllele": "T",
          "start": 1847673
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1847674T>C",
        "LRG_199:g.1847674T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3245,
          "referenceAllele": "T",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.3245T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Leu1082Ser",
        "hgvsWellDefined": "ENSP00000350765.3:p.Leu1082Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Leu340Ser",
        "hgvsWellDefined": "ENSP00000508124.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1864,
          "referenceAllele": "T",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.1864T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1891,
          "referenceAllele": "T",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.1891T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Leu340Ser",
        "hgvsWellDefined": "ENSP00000508037.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "T",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.254T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Leu85Ser",
        "hgvsWellDefined": "ENSP00000340057.4:p.Leu85Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8636,
          "referenceAllele": "T",
          "start": 8635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu2800Ser",
        "hgvsWellDefined": "ENSP00000354923.3:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8399T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8399T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu2800Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu2800Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4547,
          "referenceAllele": "T",
          "start": 4546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4367T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Leu1456Ser",
        "hgvsWellDefined": "ENSP00000479270.2:p.Leu1456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Leu340Ser",
        "hgvsWellDefined": "ENSP00000478150.2:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Leu340Ser",
        "hgvsWellDefined": "ENSP00000506386.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2060T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.212T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Leu71Ser",
        "hgvsWellDefined": "ENSP00000340057.3:p.Leu71Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8606,
          "referenceAllele": "T",
          "start": 8605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu2800Ser",
        "hgvsWellDefined": "ENSP00000354923.3:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1487,
          "referenceAllele": "T",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.1487T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Leu496Ser",
        "hgvsWellDefined": "ENSP00000350765.2:p.Leu496Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Leu340Ser",
        "hgvsWellDefined": "ENSP00000352894.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8582,
          "referenceAllele": "T",
          "start": 8581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8387T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Leu2796Ser",
        "hgvsWellDefined": "ENSP00000367948.2:p.Leu2796Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Leu340Ser",
        "hgvsWellDefined": "ENSP00000367979.3:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "T",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000445312.1:n.456T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS298225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Leu340Ser",
        "hgvsWellDefined": "ENSP00000417123.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Leu340Ser",
        "hgvsWellDefined": "ENSP00000444119.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8384,
          "referenceAllele": "T",
          "start": 8383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8384T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Leu2795Ser",
        "hgvsWellDefined": "ENSP00000479270.1:p.Leu2795Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8396,
          "referenceAllele": "T",
          "start": 8395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8396T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Leu2799Ser",
        "hgvsWellDefined": "ENSP00000478150.1:p.Leu2799Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8719,
          "referenceAllele": "T",
          "start": 8718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8375T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Leu2792Ser",
        "hgvsWellDefined": "NP_000100.2:p.Leu2792Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA222515",
      "coordinates": [
        {
          "allele": "C",
          "end": 8643,
          "referenceAllele": "T",
          "start": 8642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8399T>C",
        "LRG_199t1:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Leu2800Ser",
        "hgvsWellDefined": "NP_003997.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493363",
      "coordinates": [
        {
          "allele": "C",
          "end": 8650,
          "referenceAllele": "T",
          "start": 8649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8387T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Leu2796Ser",
        "hgvsWellDefined": "NP_004000.1:p.Leu2796Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498565",
      "coordinates": [
        {
          "allele": "C",
          "end": 8733,
          "referenceAllele": "T",
          "start": 8732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8030T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Leu2677Ser",
        "hgvsWellDefined": "NP_004001.1:p.Leu2677Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4421,
          "referenceAllele": "T",
          "start": 4420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4376T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Leu1459Ser",
        "hgvsWellDefined": "NP_004002.2:p.Leu1459Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4564,
          "referenceAllele": "T",
          "start": 4563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4367T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Leu1456Ser",
        "hgvsWellDefined": "NP_004003.1:p.Leu1456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Leu340Ser",
        "hgvsWellDefined": "NP_004004.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002258",
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Leu71Ser",
        "hgvsWellDefined": "NP_004005.1:p.Leu71Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Leu340Ser",
        "hgvsWellDefined": "NP_004011.2:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Leu340Ser",
        "hgvsWellDefined": "NP_004012.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Leu340Ser",
        "hgvsWellDefined": "NP_004013.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Leu340Ser",
        "hgvsWellDefined": "NP_004014.1:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_006724531.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8478,
          "referenceAllele": "T",
          "start": 8477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu2792Ser",
        "hgvsWellDefined": "XP_006724532.1:p.Leu2792Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_006724533.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_006724534.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8467,
          "referenceAllele": "T",
          "start": 8466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.8270T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Leu2757Ser",
        "hgvsWellDefined": "XP_006724535.1:p.Leu2757Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8458,
          "referenceAllele": "T",
          "start": 8457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.8261T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Leu2754Ser",
        "hgvsWellDefined": "XP_006724536.1:p.Leu2754Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_006724537.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_006724538.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8473,
          "referenceAllele": "T",
          "start": 8472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.8276T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Leu2759Ser",
        "hgvsWellDefined": "XP_011543769.1:p.Leu2759Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_011543770.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8570,
          "referenceAllele": "T",
          "start": 8569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8375T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu2792Ser",
        "hgvsWellDefined": "XP_006724532.1:p.Leu2792Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_006724533.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_006724537.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_011543770.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8596,
          "referenceAllele": "T",
          "start": 8595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Leu2800Ser",
        "hgvsWellDefined": "XP_016884817.1:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3172,
          "referenceAllele": "T",
          "start": 3171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.2573T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Leu858Ser",
        "hgvsWellDefined": "XP_016884820.1:p.Leu858Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074316",
      "coordinates": [
        {
          "allele": "C",
          "end": 8498,
          "referenceAllele": "T",
          "start": 8497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8375T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Leu2792Ser",
        "hgvsWellDefined": "NP_000100.3:p.Leu2792Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829486755",
      "coordinates": [
        {
          "allele": "C",
          "end": 8636,
          "referenceAllele": "T",
          "start": 8635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8399T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Leu2800Ser",
        "hgvsWellDefined": "NP_003997.2:p.Leu2800Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8399T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8399T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu2800Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu2800Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500308",
      "coordinates": [
        {
          "allele": "C",
          "end": 4395,
          "referenceAllele": "T",
          "start": 4394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4376T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Leu1459Ser",
        "hgvsWellDefined": "NP_004002.3:p.Leu1459Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829502898",
      "coordinates": [
        {
          "allele": "C",
          "end": 4538,
          "referenceAllele": "T",
          "start": 4537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4367T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Leu1456Ser",
        "hgvsWellDefined": "NP_004003.2:p.Leu1456Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509613",
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Leu340Ser",
        "hgvsWellDefined": "NP_004012.2:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511895",
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Leu340Ser",
        "hgvsWellDefined": "NP_004014.2:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504108",
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Leu340Ser",
        "hgvsWellDefined": "NP_004004.2:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084323",
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "T",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.212T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Leu71Ser",
        "hgvsWellDefined": "NP_004005.2:p.Leu71Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508483",
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Leu340Ser",
        "hgvsWellDefined": "NP_004011.3:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829510794",
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Leu340Ser",
        "hgvsWellDefined": "NP_004013.2:p.Leu340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}