{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412672583",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.4858G>C (p.Glu1620Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1035484[alleleid]",
        "alleleId": 1035484,
        "preferredName": "NM_004006.3(DMD):c.4858G>C (p.Glu1620Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1047689",
        "RCV": [
          "RCV001352443",
          "RCV001825981"
        ],
        "variationId": 1047689
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32383304C>G?assembly=hg19",
        "id": "chrX:g.32383304C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32365187C>G?assembly=hg38",
        "id": "chrX:g.32365187C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502645",
        "rs": 1060502645
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32365187-C-G?dataset=gnomad_r4",
        "id": "X-32365187-C-G",
        "variant": "X:32365187 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32365187,
          "referenceAllele": "C",
          "start": 32365186
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32365187C>G",
        "CM000685.2:g.32365187C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32383304,
          "referenceAllele": "C",
          "start": 32383303
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32383304C>G",
        "CM000685.1:g.32383304C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32293225,
          "referenceAllele": "C",
          "start": 32293224
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32293225C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 979423,
          "referenceAllele": "G",
          "start": 979422
        }
      ],
      "hgvs": [
        "NG_012232.1:g.979423G>C",
        "LRG_199:g.979423G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5095,
          "referenceAllele": "G",
          "start": 5094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Glu1620Gln",
        "hgvsWellDefined": "ENSP00000354923.3:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.4858G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.4858G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Glu1620Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Glu1620Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.826G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Glu276Gln",
        "hgvsWellDefined": "ENSP00000479270.2:p.Glu276Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5065,
          "referenceAllele": "G",
          "start": 5064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Glu1620Gln",
        "hgvsWellDefined": "ENSP00000354923.3:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5041,
          "referenceAllele": "G",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.4846G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Glu1616Gln",
        "hgvsWellDefined": "ENSP00000367948.2:p.Glu1616Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.106G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:p.Glu36Gln",
        "hgvsWellDefined": "ENSP00000399897.1:p.Glu36Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 476,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-477G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-477G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 148123,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 148124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-148124G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4846,
          "referenceAllele": "G",
          "start": 4845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.4846G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Glu1616Gln",
        "hgvsWellDefined": "ENSP00000479270.1:p.Glu1616Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4858,
          "referenceAllele": "G",
          "start": 4857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Glu1620Gln",
        "hgvsWellDefined": "ENSP00000478150.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5178,
          "referenceAllele": "G",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.4834G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Glu1612Gln",
        "hgvsWellDefined": "NP_000100.2:p.Glu1612Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5102,
          "referenceAllele": "G",
          "start": 5101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.4858G>C",
        "LRG_199t1:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Glu1620Gln",
        "hgvsWellDefined": "NP_003997.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829491626",
      "coordinates": [
        {
          "allele": "C",
          "end": 5109,
          "referenceAllele": "G",
          "start": 5108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.4846G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Glu1616Gln",
        "hgvsWellDefined": "NP_004000.1:p.Glu1616Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829497178",
      "coordinates": [
        {
          "allele": "C",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.4489G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Glu1497Gln",
        "hgvsWellDefined": "NP_004001.1:p.Glu1497Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.835G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Glu279Gln",
        "hgvsWellDefined": "NP_004002.2:p.Glu279Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.826G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Glu276Gln",
        "hgvsWellDefined": "NP_004003.1:p.Glu276Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_006724531.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4937,
          "referenceAllele": "G",
          "start": 4936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.4834G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Glu1612Gln",
        "hgvsWellDefined": "XP_006724532.1:p.Glu1612Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_006724533.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_006724534.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4926,
          "referenceAllele": "G",
          "start": 4925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.4729G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Glu1577Gln",
        "hgvsWellDefined": "XP_006724535.1:p.Glu1577Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_006724536.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_006724537.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_006724538.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_011543769.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_011543770.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_011543771.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5029,
          "referenceAllele": "G",
          "start": 5028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.4834G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Glu1612Gln",
        "hgvsWellDefined": "XP_006724532.1:p.Glu1612Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_006724533.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_006724537.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_011543770.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_016884817.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_016884818.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "G",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Glu1620Gln",
        "hgvsWellDefined": "XP_016884819.1:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825072930",
      "coordinates": [
        {
          "allele": "C",
          "end": 4957,
          "referenceAllele": "G",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.4834G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Glu1612Gln",
        "hgvsWellDefined": "NP_000100.3:p.Glu1612Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829484426",
      "coordinates": [
        {
          "allele": "C",
          "end": 5095,
          "referenceAllele": "G",
          "start": 5094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.4858G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Glu1620Gln",
        "hgvsWellDefined": "NP_003997.2:p.Glu1620Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.4858G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.4858G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Glu1620Gln"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Glu1620Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499265528",
      "coordinates": [
        {
          "allele": "C",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.835G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Glu279Gln",
        "hgvsWellDefined": "NP_004002.3:p.Glu279Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829501512",
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.826G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Glu276Gln",
        "hgvsWellDefined": "NP_004003.2:p.Glu276Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}