{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA222524",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8893G>A (p.Asp2965Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1467531",
        "active": true,
        "id": "COSM1467531"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1467532",
        "active": true,
        "id": "COSM1467532"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1467533",
        "active": true,
        "id": "COSM1467533"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1467534",
        "active": true,
        "id": "COSM1467534"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1467535",
        "active": true,
        "id": "COSM1467535"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100718[alleleid]",
        "alleleId": 100718,
        "preferredName": "NM_004006.3(DMD):c.8893G>A (p.Asp2965Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94818",
        "RCV": [
          "RCV000080815",
          "RCV002514417"
        ],
        "variationId": 94818
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31496267-C-T",
        "id": "X-31496267-C-T",
        "variant": "X:31496267 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31496267C>T?assembly=hg19",
        "id": "chrX:g.31496267C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31478150C>T?assembly=hg38",
        "id": "chrX:g.31478150C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398124077",
        "rs": 398124077
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31496267-C-T?dataset=gnomad_r2_1",
        "id": "X-31496267-C-T",
        "variant": "X:31496267 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31478150-C-T?dataset=gnomad_r4",
        "id": "X-31478150-C-T",
        "variant": "X:31478150 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31478150,
          "referenceAllele": "C",
          "start": 31478149
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31478150C>T",
        "CM000685.2:g.31478150C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31496267,
          "referenceAllele": "C",
          "start": 31496266
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31496267C>T",
        "CM000685.1:g.31496267C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31406188,
          "referenceAllele": "C",
          "start": 31406187
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31406188C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1866460,
          "referenceAllele": "G",
          "start": 1866459
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1866460G>A",
        "LRG_199:g.1866460G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3739,
          "referenceAllele": "G",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.3739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Asp1247Asn",
        "hgvsWellDefined": "ENSP00000350765.3:p.Asp1247Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Asp505Asn",
        "hgvsWellDefined": "ENSP00000508124.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2358,
          "referenceAllele": "G",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.2358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2385,
          "referenceAllele": "G",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.2385G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Asp505Asn",
        "hgvsWellDefined": "ENSP00000508037.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.748G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Asp250Asn",
        "hgvsWellDefined": "ENSP00000340057.4:p.Asp250Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9130,
          "referenceAllele": "G",
          "start": 9129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asp2965Asn",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8893G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8893G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp2965Asn"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp2965Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5041,
          "referenceAllele": "G",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4861G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Asp1621Asn",
        "hgvsWellDefined": "ENSP00000479270.2:p.Asp1621Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Asp505Asn",
        "hgvsWellDefined": "ENSP00000478150.2:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Asp505Asn",
        "hgvsWellDefined": "ENSP00000506386.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2554G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Asp236Asn",
        "hgvsWellDefined": "ENSP00000340057.3:p.Asp236Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9100,
          "referenceAllele": "G",
          "start": 9099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asp2965Asn",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "referenceAllele": "G",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.1981G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Asp661Asn",
        "hgvsWellDefined": "ENSP00000350765.2:p.Asp661Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Asp505Asn",
        "hgvsWellDefined": "ENSP00000352894.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9076,
          "referenceAllele": "G",
          "start": 9075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8881G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Asp2961Asn",
        "hgvsWellDefined": "ENSP00000367948.2:p.Asp2961Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Asp505Asn",
        "hgvsWellDefined": "ENSP00000367979.3:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Asp505Asn",
        "hgvsWellDefined": "ENSP00000417123.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Asp505Asn",
        "hgvsWellDefined": "ENSP00000444119.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8878,
          "referenceAllele": "G",
          "start": 8877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8878G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Asp2960Asn",
        "hgvsWellDefined": "ENSP00000479270.1:p.Asp2960Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8890,
          "referenceAllele": "G",
          "start": 8889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8890G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Asp2964Asn",
        "hgvsWellDefined": "ENSP00000478150.1:p.Asp2964Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9213,
          "referenceAllele": "G",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Asp2957Asn",
        "hgvsWellDefined": "NP_000100.2:p.Asp2957Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA222526",
      "coordinates": [
        {
          "allele": "A",
          "end": 9137,
          "referenceAllele": "G",
          "start": 9136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8893G>A",
        "LRG_199t1:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Asp2965Asn",
        "hgvsWellDefined": "NP_003997.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493612",
      "coordinates": [
        {
          "allele": "A",
          "end": 9144,
          "referenceAllele": "G",
          "start": 9143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8881G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Asp2961Asn",
        "hgvsWellDefined": "NP_004000.1:p.Asp2961Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498778",
      "coordinates": [
        {
          "allele": "A",
          "end": 9227,
          "referenceAllele": "G",
          "start": 9226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8524G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Asp2842Asn",
        "hgvsWellDefined": "NP_004001.1:p.Asp2842Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4915,
          "referenceAllele": "G",
          "start": 4914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4870G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Asp1624Asn",
        "hgvsWellDefined": "NP_004002.2:p.Asp1624Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5058,
          "referenceAllele": "G",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4861G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Asp1621Asn",
        "hgvsWellDefined": "NP_004003.1:p.Asp1621Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Asp505Asn",
        "hgvsWellDefined": "NP_004004.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Asp236Asn",
        "hgvsWellDefined": "NP_004005.1:p.Asp236Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Asp505Asn",
        "hgvsWellDefined": "NP_004011.2:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Asp505Asn",
        "hgvsWellDefined": "NP_004012.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Asp505Asn",
        "hgvsWellDefined": "NP_004013.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Asp505Asn",
        "hgvsWellDefined": "NP_004014.1:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_006724531.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8972,
          "referenceAllele": "G",
          "start": 8971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8869G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asp2957Asn",
        "hgvsWellDefined": "XP_006724532.1:p.Asp2957Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_006724533.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_006724534.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8961,
          "referenceAllele": "G",
          "start": 8960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.8764G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Asp2922Asn",
        "hgvsWellDefined": "XP_006724535.1:p.Asp2922Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8952,
          "referenceAllele": "G",
          "start": 8951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.8755G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Asp2919Asn",
        "hgvsWellDefined": "XP_006724536.1:p.Asp2919Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_006724537.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_006724538.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8967,
          "referenceAllele": "G",
          "start": 8966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.8770G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Asp2924Asn",
        "hgvsWellDefined": "XP_011543769.1:p.Asp2924Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_011543770.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9064,
          "referenceAllele": "G",
          "start": 9063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8869G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asp2957Asn",
        "hgvsWellDefined": "XP_006724532.1:p.Asp2957Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_006724533.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_006724537.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_011543770.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9090,
          "referenceAllele": "G",
          "start": 9089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Asp2965Asn",
        "hgvsWellDefined": "XP_016884817.1:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3666,
          "referenceAllele": "G",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.3067G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Asp1023Asn",
        "hgvsWellDefined": "XP_016884820.1:p.Asp1023Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074528",
      "coordinates": [
        {
          "allele": "A",
          "end": 8992,
          "referenceAllele": "G",
          "start": 8991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8869G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Asp2957Asn",
        "hgvsWellDefined": "NP_000100.3:p.Asp2957Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487042",
      "coordinates": [
        {
          "allele": "A",
          "end": 9130,
          "referenceAllele": "G",
          "start": 9129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8893G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Asp2965Asn",
        "hgvsWellDefined": "NP_003997.2:p.Asp2965Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8893G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8893G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp2965Asn"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp2965Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500521",
      "coordinates": [
        {
          "allele": "A",
          "end": 4889,
          "referenceAllele": "G",
          "start": 4888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4870G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Asp1624Asn",
        "hgvsWellDefined": "NP_004002.3:p.Asp1624Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503111",
      "coordinates": [
        {
          "allele": "A",
          "end": 5032,
          "referenceAllele": "G",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4861G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Asp1621Asn",
        "hgvsWellDefined": "NP_004003.2:p.Asp1621Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509825",
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Asp505Asn",
        "hgvsWellDefined": "NP_004012.2:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002683",
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Asp505Asn",
        "hgvsWellDefined": "NP_004014.2:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504320",
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Asp505Asn",
        "hgvsWellDefined": "NP_004004.2:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505182",
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Asp236Asn",
        "hgvsWellDefined": "NP_004005.2:p.Asp236Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508696",
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Asp505Asn",
        "hgvsWellDefined": "NP_004011.3:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511006",
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Asp505Asn",
        "hgvsWellDefined": "NP_004013.2:p.Asp505Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}