{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616494",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.4698G>A (p.Leu1566=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404226[alleleid]",
        "alleleId": 404226,
        "preferredName": "NM_004006.3(DMD):c.4698G>A (p.Leu1566=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/415869",
        "RCV": [
          "RCV000598268",
          "RCV001418284"
        ],
        "variationId": 415869
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32398774C>T?assembly=hg19",
        "id": "chrX:g.32398774C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32380657C>T?assembly=hg38",
        "id": "chrX:g.32380657C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060504680",
        "rs": 1060504680
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32398774-C-T?dataset=gnomad_r2_1",
        "id": "X-32398774-C-T",
        "variant": "X:32398774 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32380657-C-T?dataset=gnomad_r4",
        "id": "X-32380657-C-T",
        "variant": "X:32380657 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32380657,
          "referenceAllele": "C",
          "start": 32380656
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32380657C>T",
        "CM000685.2:g.32380657C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32398774,
          "referenceAllele": "C",
          "start": 32398773
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32398774C>T",
        "CM000685.1:g.32398774C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32308695,
          "referenceAllele": "C",
          "start": 32308694
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32308695C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 963953,
          "referenceAllele": "G",
          "start": 963952
        }
      ],
      "hgvs": [
        "NG_012232.1:g.963953G>A",
        "LRG_199:g.963953G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4935,
          "referenceAllele": "G",
          "start": 4934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.4698G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.4698G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu1566="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu1566="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.666G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Leu222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4905,
          "referenceAllele": "G",
          "start": 4904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4881,
          "referenceAllele": "G",
          "start": 4880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.4686G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Leu1562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 15457,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 15458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-15458G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-15458G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 15946,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 15947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-15947G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-15947G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 163593,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 163594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-163594G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4686,
          "referenceAllele": "G",
          "start": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.4686G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Leu1562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4698,
          "referenceAllele": "G",
          "start": 4697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5018,
          "referenceAllele": "G",
          "start": 5017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.4674G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Leu1558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4942,
          "referenceAllele": "G",
          "start": 4941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.4698G>A",
        "LRG_199t1:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829491548",
      "coordinates": [
        {
          "allele": "A",
          "end": 4949,
          "referenceAllele": "G",
          "start": 4948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.4686G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Leu1562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829497109",
      "coordinates": [
        {
          "allele": "A",
          "end": 5032,
          "referenceAllele": "G",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.4329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Leu1443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Leu225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.666G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Leu222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4777,
          "referenceAllele": "G",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.4674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu1558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4766,
          "referenceAllele": "G",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.4569G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Leu1523="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4869,
          "referenceAllele": "G",
          "start": 4868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.4674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Leu1558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4895,
          "referenceAllele": "G",
          "start": 4894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825072861",
      "coordinates": [
        {
          "allele": "A",
          "end": 4797,
          "referenceAllele": "G",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.4674G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Leu1558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829484331",
      "coordinates": [
        {
          "allele": "A",
          "end": 4935,
          "referenceAllele": "G",
          "start": 4934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.4698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Leu1566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.4698G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.4698G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Leu1566="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Leu1566="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829499551",
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Leu225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829501443",
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.666G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Leu222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}