{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10379980",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.1058C>T (p.Ser353Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5590555",
        "active": true,
        "id": "COSM5590555"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5590556",
        "active": true,
        "id": "COSM5590556"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5590557",
        "active": true,
        "id": "COSM5590557"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490012[alleleid]",
        "alleleId": 490012,
        "preferredName": "NM_004006.3(DMD):c.1058C>T (p.Ser353Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/498588",
        "RCV": [
          "RCV000596128",
          "RCV001242280"
        ],
        "variationId": 498588
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32663172-G-A",
        "id": "X-32663172-G-A",
        "variant": "X:32663172 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32663172G>A?assembly=hg19",
        "id": "chrX:g.32663172G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32645055G>A?assembly=hg38",
        "id": "chrX:g.32645055G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374713915",
        "rs": 374713915
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32663172-G-A?dataset=gnomad_r2_1",
        "id": "X-32663172-G-A",
        "variant": "X:32663172 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32645055-G-A?dataset=gnomad_r3",
        "id": "X-32645055-G-A",
        "variant": "X:32645055 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32645055-G-A?dataset=gnomad_r4",
        "id": "X-32645055-G-A",
        "variant": "X:32645055 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32645055,
          "referenceAllele": "G",
          "start": 32645054
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32645055G>A",
        "CM000685.2:g.32645055G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32663172,
          "referenceAllele": "G",
          "start": 32663171
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32663172G>A",
        "CM000685.1:g.32663172G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32573093,
          "referenceAllele": "G",
          "start": 32573092
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32573093G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699555,
          "referenceAllele": "C",
          "start": 699554
        }
      ],
      "hgvs": [
        "NG_012232.1:g.699555C>T",
        "LRG_199:g.699555C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682071.1:c.689C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508133.1:p.Ser230Leu",
        "hgvsWellDefined": "ENSP00000508133.1:p.Ser230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.1265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682924.1:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508187.1:p.Ser353Leu",
        "hgvsWellDefined": "ENSP00000508187.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.1265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684165.1:n.1265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684237.1:c.929C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507277.1:p.Ser310Leu",
        "hgvsWellDefined": "ENSP00000507277.1:p.Ser310Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684292.1:n.1265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.9:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Ser345Leu",
        "hgvsWellDefined": "ENSP00000288447.4:p.Ser345Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ser353Leu",
        "hgvsWellDefined": "ENSP00000354923.3:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.1058C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.1058C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ser353Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ser353Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.8:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Ser345Leu",
        "hgvsWellDefined": "ENSP00000288447.4:p.Ser345Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "C",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ser353Leu",
        "hgvsWellDefined": "ENSP00000354923.3:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.1046C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Ser349Leu",
        "hgvsWellDefined": "ENSP00000367948.2:p.Ser349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 279855,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 279856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-279856C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-279856C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "endIntronDirection": "-",
          "endIntronOffset": 71208,
          "referenceAllele": "C",
          "start": 246,
          "startIntronDirection": "-",
          "startIntronOffset": 71209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000447523.1:c.247-71209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395904.1:n.247-71209C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 280344,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 280345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-280345C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-280345C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 71208,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 71209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000480751.1:n.87-71209C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 375084,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 375083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.335+375084C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "C",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.1046C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Ser349Leu",
        "hgvsWellDefined": "ENSP00000479270.1:p.Ser349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Ser353Leu",
        "hgvsWellDefined": "ENSP00000478150.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Ser345Leu",
        "hgvsWellDefined": "NP_000100.2:p.Ser345Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812726",
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "C",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.1058C>T",
        "LRG_199t1:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Ser353Leu",
        "hgvsWellDefined": "NP_003997.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829489041",
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "C",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.1046C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Ser349Leu",
        "hgvsWellDefined": "NP_004000.1:p.Ser349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829494875",
      "coordinates": [
        {
          "allele": "T",
          "end": 1392,
          "referenceAllele": "C",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.689C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Ser230Leu",
        "hgvsWellDefined": "NP_004001.1:p.Ser230Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_006724531.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ser345Leu",
        "hgvsWellDefined": "XP_006724532.1:p.Ser345Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_006724533.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_006724534.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1126,
          "referenceAllele": "C",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.929C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Ser310Leu",
        "hgvsWellDefined": "XP_006724535.1:p.Ser310Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_006724536.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_006724537.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_006724538.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_011543769.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_011543770.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_011543771.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ser345Leu",
        "hgvsWellDefined": "XP_006724532.1:p.Ser345Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_006724533.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_006724537.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_011543770.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_016884817.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_016884818.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Ser353Leu",
        "hgvsWellDefined": "XP_016884819.1:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825071081",
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Ser345Leu",
        "hgvsWellDefined": "NP_000100.3:p.Ser345Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084052",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.1058C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Ser353Leu",
        "hgvsWellDefined": "NP_003997.2:p.Ser353Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.1058C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.1058C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ser353Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ser353Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}