{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10378670",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361890[alleleid]",
        "alleleId": 361890,
        "preferredName": "NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374948",
        "RCV": [
          "RCV000415685",
          "RCV000415628",
          "RCV000415647",
          "RCV000513342",
          "RCV001833509"
        ],
        "variationId": 374948
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32364157-C-A",
        "id": "X-32364157-C-A",
        "variant": "X:32364157 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32364157C>A?assembly=hg19",
        "id": "chrX:g.32364157C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32346040C>A?assembly=hg38",
        "id": "chrX:g.32346040C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369055628",
        "rs": 369055628
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32364157-C-A?dataset=gnomad_r2_1",
        "id": "X-32364157-C-A",
        "variant": "X:32364157 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32346040-C-A?dataset=gnomad_r3",
        "id": "X-32346040-C-A",
        "variant": "X:32346040 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32346040-C-A?dataset=gnomad_r4",
        "id": "X-32346040-C-A",
        "variant": "X:32346040 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32346040,
          "referenceAllele": "C",
          "start": 32346039
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32346040C>A",
        "CM000685.2:g.32346040C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32364157,
          "referenceAllele": "C",
          "start": 32364156
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32364157C>A",
        "CM000685.1:g.32364157C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32274078,
          "referenceAllele": "C",
          "start": 32274077
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32274078C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998570,
          "referenceAllele": "G",
          "start": 998569
        }
      ],
      "hgvs": [
        "NG_012232.1:g.998570G>T",
        "LRG_199:g.998570G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "G",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.335G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Arg112Ile",
        "hgvsWellDefined": "ENSP00000350765.3:p.Arg112Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5726,
          "referenceAllele": "G",
          "start": 5725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg1830Ile",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5489G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5489G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg1830Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg1830Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.1457G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Arg486Ile",
        "hgvsWellDefined": "ENSP00000479270.2:p.Arg486Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5696,
          "referenceAllele": "G",
          "start": 5695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg1830Ile",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5672,
          "referenceAllele": "G",
          "start": 5671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.5477G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Arg1826Ile",
        "hgvsWellDefined": "ENSP00000367948.2:p.Arg1826Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 128976,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 128977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-128977G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000493412.1:c.146G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417725.1:p.Arg49Ile",
        "hgvsWellDefined": "ENSP00000417725.1:p.Arg49Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5477,
          "referenceAllele": "G",
          "start": 5476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.5477G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Arg1826Ile",
        "hgvsWellDefined": "ENSP00000479270.1:p.Arg1826Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5489,
          "referenceAllele": "G",
          "start": 5488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Arg1830Ile",
        "hgvsWellDefined": "ENSP00000478150.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5809,
          "referenceAllele": "G",
          "start": 5808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.5465G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Arg1822Ile",
        "hgvsWellDefined": "NP_000100.2:p.Arg1822Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482772",
      "coordinates": [
        {
          "allele": "T",
          "end": 5733,
          "referenceAllele": "G",
          "start": 5732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.5489G>T",
        "LRG_199t1:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Arg1830Ile",
        "hgvsWellDefined": "NP_003997.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829491987",
      "coordinates": [
        {
          "allele": "T",
          "end": 5740,
          "referenceAllele": "G",
          "start": 5739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.5477G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Arg1826Ile",
        "hgvsWellDefined": "NP_004000.1:p.Arg1826Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829497475",
      "coordinates": [
        {
          "allele": "T",
          "end": 5823,
          "referenceAllele": "G",
          "start": 5822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.5120G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Arg1707Ile",
        "hgvsWellDefined": "NP_004001.1:p.Arg1707Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.1466G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Arg489Ile",
        "hgvsWellDefined": "NP_004002.2:p.Arg489Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.1457G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Arg486Ile",
        "hgvsWellDefined": "NP_004003.1:p.Arg486Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_006724531.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5568,
          "referenceAllele": "G",
          "start": 5567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.5465G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg1822Ile",
        "hgvsWellDefined": "XP_006724532.1:p.Arg1822Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_006724533.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_006724534.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5557,
          "referenceAllele": "G",
          "start": 5556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.5360G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Arg1787Ile",
        "hgvsWellDefined": "XP_006724535.1:p.Arg1787Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5645,
          "endIntronDirection": "+",
          "endIntronOffset": 2366,
          "referenceAllele": "G",
          "start": 5645,
          "startIntronDirection": "+",
          "startIntronOffset": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.5448+2366G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:n.5448+2366G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_006724537.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_006724538.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5563,
          "referenceAllele": "G",
          "start": 5562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.5366G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Arg1789Ile",
        "hgvsWellDefined": "XP_011543769.1:p.Arg1789Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_011543770.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_011543771.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5660,
          "referenceAllele": "G",
          "start": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.5465G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg1822Ile",
        "hgvsWellDefined": "XP_006724532.1:p.Arg1822Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_006724533.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_006724537.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_011543770.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_016884817.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_016884818.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Arg1830Ile",
        "hgvsWellDefined": "XP_016884819.1:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825073227",
      "coordinates": [
        {
          "allele": "T",
          "end": 5588,
          "referenceAllele": "G",
          "start": 5587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.5465G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg1822Ile",
        "hgvsWellDefined": "NP_000100.3:p.Arg1822Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829485020",
      "coordinates": [
        {
          "allele": "T",
          "end": 5726,
          "referenceAllele": "G",
          "start": 5725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.5489G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg1830Ile",
        "hgvsWellDefined": "NP_003997.2:p.Arg1830Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5489G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5489G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg1830Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg1830Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916001751",
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.1466G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Arg489Ile",
        "hgvsWellDefined": "NP_004002.3:p.Arg489Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829501809",
      "coordinates": [
        {
          "allele": "T",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.1457G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Arg486Ile",
        "hgvsWellDefined": "NP_004003.2:p.Arg486Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}