{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10379975",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.1095A>C (p.Gln365His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5020819",
        "active": true,
        "id": "COSM5020819"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5020820",
        "active": true,
        "id": "COSM5020820"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5020821",
        "active": true,
        "id": "COSM5020821"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266724[alleleid]",
        "alleleId": 266724,
        "preferredName": "NM_004006.3(DMD):c.1095A>C (p.Gln365His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282487",
        "RCV": [
          "RCV000367474",
          "RCV001701930",
          "RCV000458417",
          "RCV000618297",
          "RCV001168120"
        ],
        "variationId": 282487
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32663135-T-G",
        "id": "X-32663135-T-G",
        "variant": "X:32663135 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32663135T>G?assembly=hg19",
        "id": "chrX:g.32663135T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32645018T>G?assembly=hg38",
        "id": "chrX:g.32645018T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800266",
        "rs": 1800266
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32663135-T-G?dataset=gnomad_r2_1",
        "id": "X-32663135-T-G",
        "variant": "X:32663135 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32645018-T-G?dataset=gnomad_r3",
        "id": "X-32645018-T-G",
        "variant": "X:32645018 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32645018-T-G?dataset=gnomad_r4",
        "id": "X-32645018-T-G",
        "variant": "X:32645018 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32645018,
          "referenceAllele": "T",
          "start": 32645017
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32645018T>G",
        "CM000685.2:g.32645018T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32663135,
          "referenceAllele": "T",
          "start": 32663134
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32663135T>G",
        "CM000685.1:g.32663135T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32573056,
          "referenceAllele": "T",
          "start": 32573055
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32573056T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699592,
          "referenceAllele": "A",
          "start": 699591
        }
      ],
      "hgvs": [
        "NG_012232.1:g.699592A>C",
        "LRG_199:g.699592A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1441,
          "referenceAllele": "A",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682071.1:c.726A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508133.1:p.Gln242His",
        "hgvsWellDefined": "ENSP00000508133.1:p.Gln242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "A",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.1302A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1280,
          "referenceAllele": "A",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682924.1:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508187.1:p.Gln365His",
        "hgvsWellDefined": "ENSP00000508187.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "A",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.1302A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "A",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684165.1:n.1302A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684237.1:c.966A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507277.1:p.Gln322His",
        "hgvsWellDefined": "ENSP00000507277.1:p.Gln322His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "A",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684292.1:n.1302A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1415,
          "referenceAllele": "A",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.9:c.1071A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Gln357His",
        "hgvsWellDefined": "ENSP00000288447.4:p.Gln357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1332,
          "referenceAllele": "A",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gln365His",
        "hgvsWellDefined": "ENSP00000354923.3:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.1095A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.1095A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gln365His"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln365His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "referenceAllele": "A",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.8:c.1071A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Gln357His",
        "hgvsWellDefined": "ENSP00000288447.4:p.Gln357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "A",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gln365His",
        "hgvsWellDefined": "ENSP00000354923.3:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "referenceAllele": "A",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.1083A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Gln361His",
        "hgvsWellDefined": "ENSP00000367948.2:p.Gln361His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 279818,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 279819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-279819A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-279819A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 71171,
          "referenceAllele": "A",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 71172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000447523.1:c.247-71172A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395904.1:n.247-71172A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 280307,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 280308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-280308A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-280308A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 71171,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 71172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000480751.1:n.87-71172A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 375121,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 375120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.335+375121A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.1083A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Gln361His",
        "hgvsWellDefined": "ENSP00000479270.1:p.Gln361His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1095,
          "referenceAllele": "A",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Gln365His",
        "hgvsWellDefined": "ENSP00000478150.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1415,
          "referenceAllele": "A",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.1071A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Gln357His",
        "hgvsWellDefined": "NP_000100.2:p.Gln357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645480151",
      "coordinates": [
        {
          "allele": "C",
          "end": 1339,
          "referenceAllele": "A",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.1095A>C",
        "LRG_199t1:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Gln365His",
        "hgvsWellDefined": "NP_003997.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829489089",
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "A",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.1083A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Gln361His",
        "hgvsWellDefined": "NP_004000.1:p.Gln361His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829494897",
      "coordinates": [
        {
          "allele": "C",
          "end": 1429,
          "referenceAllele": "A",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.726A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Gln242His",
        "hgvsWellDefined": "NP_004001.1:p.Gln242His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Gln365His",
        "hgvsWellDefined": "XP_006724531.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1174,
          "referenceAllele": "A",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.1071A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gln357His",
        "hgvsWellDefined": "XP_006724532.1:p.Gln357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gln365His",
        "hgvsWellDefined": "XP_006724533.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Gln365His",
        "hgvsWellDefined": "XP_006724534.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "A",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.966A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Gln322His",
        "hgvsWellDefined": "XP_006724535.1:p.Gln322His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Gln365His",
        "hgvsWellDefined": "XP_006724536.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gln365His",
        "hgvsWellDefined": "XP_006724537.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Gln365His",
        "hgvsWellDefined": "XP_006724538.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Gln365His",
        "hgvsWellDefined": "XP_011543769.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gln365His",
        "hgvsWellDefined": "XP_011543770.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Gln365His",
        "hgvsWellDefined": "XP_011543771.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "referenceAllele": "A",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.1071A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gln357His",
        "hgvsWellDefined": "XP_006724532.1:p.Gln357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gln365His",
        "hgvsWellDefined": "XP_006724533.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gln365His",
        "hgvsWellDefined": "XP_006724537.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gln365His",
        "hgvsWellDefined": "XP_011543770.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Gln365His",
        "hgvsWellDefined": "XP_016884817.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Gln365His",
        "hgvsWellDefined": "XP_016884818.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Gln365His",
        "hgvsWellDefined": "XP_016884819.1:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825071097",
      "coordinates": [
        {
          "allele": "C",
          "end": 1194,
          "referenceAllele": "A",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.1071A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Gln357His",
        "hgvsWellDefined": "NP_000100.3:p.Gln357His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573083638",
      "coordinates": [
        {
          "allele": "C",
          "end": 1332,
          "referenceAllele": "A",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.1095A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Gln365His",
        "hgvsWellDefined": "NP_003997.2:p.Gln365His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.1095A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.1095A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gln365His"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln365His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}