{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA222521",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8852G>A (p.Arg2951His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5009349",
        "active": true,
        "id": "COSM5009349"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5009350",
        "active": true,
        "id": "COSM5009350"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5009351",
        "active": true,
        "id": "COSM5009351"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5009352",
        "active": true,
        "id": "COSM5009352"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5009353",
        "active": true,
        "id": "COSM5009353"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100717[alleleid]",
        "alleleId": 100717,
        "preferredName": "NM_004006.3(DMD):c.8852G>A (p.Arg2951His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94817",
        "RCV": [
          "RCV000080814",
          "RCV001089143",
          "RCV001831877",
          "RCV004019558"
        ],
        "variationId": 94817
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31496308-C-T",
        "id": "X-31496308-C-T",
        "variant": "X:31496308 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31496308C>T?assembly=hg19",
        "id": "chrX:g.31496308C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31478191C>T?assembly=hg38",
        "id": "chrX:g.31478191C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72466567",
        "rs": 72466567
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31496308-C-T?dataset=gnomad_r2_1",
        "id": "X-31496308-C-T",
        "variant": "X:31496308 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31478191-C-T?dataset=gnomad_r3",
        "id": "X-31478191-C-T",
        "variant": "X:31478191 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31478191-C-T?dataset=gnomad_r4",
        "id": "X-31478191-C-T",
        "variant": "X:31478191 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31478191,
          "referenceAllele": "C",
          "start": 31478190
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31478191C>T",
        "CM000685.2:g.31478191C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31496308,
          "referenceAllele": "C",
          "start": 31496307
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31496308C>T",
        "CM000685.1:g.31496308C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 31406229,
          "referenceAllele": "C",
          "start": 31406228
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31406229C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1866419,
          "referenceAllele": "G",
          "start": 1866418
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1866419G>A",
        "LRG_199:g.1866419G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3698,
          "referenceAllele": "G",
          "start": 3697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.3698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Arg1233His",
        "hgvsWellDefined": "ENSP00000350765.3:p.Arg1233His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Arg491His",
        "hgvsWellDefined": "ENSP00000508124.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2317,
          "referenceAllele": "G",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.2317G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2344,
          "referenceAllele": "G",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.2344G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Arg491His",
        "hgvsWellDefined": "ENSP00000508037.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Arg236His",
        "hgvsWellDefined": "ENSP00000340057.4:p.Arg236His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9089,
          "referenceAllele": "G",
          "start": 9088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg2951His",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8852G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8852G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg2951His"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg2951His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5000,
          "referenceAllele": "G",
          "start": 4999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4820G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Arg1607His",
        "hgvsWellDefined": "ENSP00000479270.2:p.Arg1607His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Arg491His",
        "hgvsWellDefined": "ENSP00000478150.2:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:p.Arg491His",
        "hgvsWellDefined": "ENSP00000506386.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2513G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.665G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Arg222His",
        "hgvsWellDefined": "ENSP00000340057.3:p.Arg222His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9059,
          "referenceAllele": "G",
          "start": 9058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg2951His",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1940,
          "referenceAllele": "G",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.1940G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Arg647His",
        "hgvsWellDefined": "ENSP00000350765.2:p.Arg647His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Arg491His",
        "hgvsWellDefined": "ENSP00000352894.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9035,
          "referenceAllele": "G",
          "start": 9034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Arg2947His",
        "hgvsWellDefined": "ENSP00000367948.2:p.Arg2947His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Arg491His",
        "hgvsWellDefined": "ENSP00000367979.3:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Arg491His",
        "hgvsWellDefined": "ENSP00000417123.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Arg491His",
        "hgvsWellDefined": "ENSP00000444119.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8837,
          "referenceAllele": "G",
          "start": 8836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8837G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Arg2946His",
        "hgvsWellDefined": "ENSP00000479270.1:p.Arg2946His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8849,
          "referenceAllele": "G",
          "start": 8848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8849G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Arg2950His",
        "hgvsWellDefined": "ENSP00000478150.1:p.Arg2950His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9172,
          "referenceAllele": "G",
          "start": 9171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Arg2943His",
        "hgvsWellDefined": "NP_000100.2:p.Arg2943His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA222523",
      "coordinates": [
        {
          "allele": "A",
          "end": 9096,
          "referenceAllele": "G",
          "start": 9095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8852G>A",
        "LRG_199t1:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Arg2951His",
        "hgvsWellDefined": "NP_003997.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493584",
      "coordinates": [
        {
          "allele": "A",
          "end": 9103,
          "referenceAllele": "G",
          "start": 9102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8840G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Arg2947His",
        "hgvsWellDefined": "NP_004000.1:p.Arg2947His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498755",
      "coordinates": [
        {
          "allele": "A",
          "end": 9186,
          "referenceAllele": "G",
          "start": 9185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8483G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Arg2828His",
        "hgvsWellDefined": "NP_004001.1:p.Arg2828His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4874,
          "referenceAllele": "G",
          "start": 4873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4829G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Arg1610His",
        "hgvsWellDefined": "NP_004002.2:p.Arg1610His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5017,
          "referenceAllele": "G",
          "start": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4820G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Arg1607His",
        "hgvsWellDefined": "NP_004003.1:p.Arg1607His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Arg491His",
        "hgvsWellDefined": "NP_004004.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.665G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Arg222His",
        "hgvsWellDefined": "NP_004005.1:p.Arg222His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Arg491His",
        "hgvsWellDefined": "NP_004011.2:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Arg491His",
        "hgvsWellDefined": "NP_004012.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Arg491His",
        "hgvsWellDefined": "NP_004013.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Arg491His",
        "hgvsWellDefined": "NP_004014.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Arg2951His",
        "hgvsWellDefined": "XP_006724531.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8931,
          "referenceAllele": "G",
          "start": 8930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8828G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg2943His",
        "hgvsWellDefined": "XP_006724532.1:p.Arg2943His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg2951His",
        "hgvsWellDefined": "XP_006724533.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Arg2951His",
        "hgvsWellDefined": "XP_006724534.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8920,
          "referenceAllele": "G",
          "start": 8919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.8723G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Arg2908His",
        "hgvsWellDefined": "XP_006724535.1:p.Arg2908His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8911,
          "referenceAllele": "G",
          "start": 8910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.8714G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Arg2905His",
        "hgvsWellDefined": "XP_006724536.1:p.Arg2905His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg2951His",
        "hgvsWellDefined": "XP_006724537.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Arg2951His",
        "hgvsWellDefined": "XP_006724538.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8926,
          "referenceAllele": "G",
          "start": 8925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.8729G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Arg2910His",
        "hgvsWellDefined": "XP_011543769.1:p.Arg2910His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg2951His",
        "hgvsWellDefined": "XP_011543770.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9023,
          "referenceAllele": "G",
          "start": 9022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8828G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg2943His",
        "hgvsWellDefined": "XP_006724532.1:p.Arg2943His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg2951His",
        "hgvsWellDefined": "XP_006724533.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg2951His",
        "hgvsWellDefined": "XP_006724537.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg2951His",
        "hgvsWellDefined": "XP_011543770.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9049,
          "referenceAllele": "G",
          "start": 9048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Arg2951His",
        "hgvsWellDefined": "XP_016884817.1:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3625,
          "referenceAllele": "G",
          "start": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.3026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Arg1009His",
        "hgvsWellDefined": "XP_016884820.1:p.Arg1009His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074506",
      "coordinates": [
        {
          "allele": "A",
          "end": 8951,
          "referenceAllele": "G",
          "start": 8950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8828G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg2943His",
        "hgvsWellDefined": "NP_000100.3:p.Arg2943His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487006",
      "coordinates": [
        {
          "allele": "A",
          "end": 9089,
          "referenceAllele": "G",
          "start": 9088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8852G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg2951His",
        "hgvsWellDefined": "NP_003997.2:p.Arg2951His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8852G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8852G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg2951His"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg2951His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500498",
      "coordinates": [
        {
          "allele": "A",
          "end": 4848,
          "referenceAllele": "G",
          "start": 4847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4829G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Arg1610His",
        "hgvsWellDefined": "NP_004002.3:p.Arg1610His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503088",
      "coordinates": [
        {
          "allele": "A",
          "end": 4991,
          "referenceAllele": "G",
          "start": 4990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4820G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Arg1607His",
        "hgvsWellDefined": "NP_004003.2:p.Arg1607His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509804",
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Arg491His",
        "hgvsWellDefined": "NP_004012.2:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002659",
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Arg491His",
        "hgvsWellDefined": "NP_004014.2:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504298",
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Arg491His",
        "hgvsWellDefined": "NP_004004.2:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505160",
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.665G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Arg222His",
        "hgvsWellDefined": "NP_004005.2:p.Arg222His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508675",
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Arg491His",
        "hgvsWellDefined": "NP_004011.3:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829510984",
      "coordinates": [
        {
          "allele": "A",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Arg491His",
        "hgvsWellDefined": "NP_004013.2:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}