{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273064",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.1812+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172184[alleleid]",
        "alleleId": 172184,
        "preferredName": "NM_004006.3(DMD):c.1812+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162497",
        "RCV": [
          "RCV000149882",
          "RCV000201160",
          "RCV000521440",
          "RCV000984163",
          "RCV001826801",
          "RCV003155089",
          "RCV002483296"
        ],
        "variationId": 162497
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32591646-C-T",
        "id": "X-32591646-C-T",
        "variant": "X:32591646 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32591646C>T?assembly=hg19",
        "id": "chrX:g.32591646C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32573529C>T?assembly=hg38",
        "id": "chrX:g.32573529C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373286166",
        "rs": 373286166
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32591646-C-T?dataset=gnomad_r2_1",
        "id": "X-32591646-C-T",
        "variant": "X:32591646 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32573529-C-T?dataset=gnomad_r3",
        "id": "X-32573529-C-T",
        "variant": "X:32573529 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32573529-C-T?dataset=gnomad_r4",
        "id": "X-32573529-C-T",
        "variant": "X:32573529 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32573529,
          "referenceAllele": "C",
          "start": 32573528
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32573529C>T",
        "CM000685.2:g.32573529C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32591646,
          "referenceAllele": "C",
          "start": 32591645
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32591646C>T",
        "CM000685.1:g.32591646C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32501567,
          "referenceAllele": "C",
          "start": 32501566
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32501567C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771081,
          "referenceAllele": "G",
          "start": 771080
        }
      ],
      "hgvs": [
        "NG_012232.1:g.771081G>A",
        "LRG_199:g.771081G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2158,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2158,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682071.1:c.1443+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508133.1:n.1443+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2019,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.2019+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1846,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1846,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682924.1:c.*311+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508187.1:n.*311+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2019,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.2019+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2019,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684165.1:n.2019+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2020,
          "referenceAllele": "G",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684292.1:n.2020G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2132,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2132,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.9:c.1788+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:n.1788+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2049,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2049,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.1812+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.1812+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:n.1812+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:n.1812+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1964,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1964,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.8:c.1788+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:n.1788+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2019,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1995,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1995,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.1800+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:n.1800+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 208329,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 208330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-208330G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-208330G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 208818,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 208819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-208819G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-208819G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 356465,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 356466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-356466G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1800,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1800,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.1800+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:n.1800+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1812,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1812,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2132,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2132,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.1788+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:n.1788+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2056,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2056,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.1812+1G>A",
        "LRG_199t1:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2063,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2063,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.1800+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:n.1800+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2146,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.1443+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:n.1443+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1891,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1891,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.1788+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:n.1788+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1880,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1880,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.1683+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:n.1683+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1983,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1983,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.1788+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:n.1788+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2009,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2009,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1911,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.1788+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:n.1788+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2049,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2049,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.1812+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:n.1812+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.1812+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.1812+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:n.1812+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:n.1812+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}