{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA308400",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198575[alleleid]",
        "alleleId": 198575,
        "preferredName": "NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201751",
        "RCV": [
          "RCV000183416",
          "RCV000694678",
          "RCV001273863",
          "RCV002345641"
        ],
        "variationId": 201751
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32361315-C-T",
        "id": "X-32361315-C-T",
        "variant": "X:32361315 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32361315C>T?assembly=hg19",
        "id": "chrX:g.32361315C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32343198C>T?assembly=hg38",
        "id": "chrX:g.32343198C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137898199",
        "rs": 137898199
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32361315-C-T?dataset=gnomad_r2_1",
        "id": "X-32361315-C-T",
        "variant": "X:32361315 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32343198-C-T?dataset=gnomad_r3",
        "id": "X-32343198-C-T",
        "variant": "X:32343198 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32343198-C-T?dataset=gnomad_r4",
        "id": "X-32343198-C-T",
        "variant": "X:32343198 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32343198,
          "referenceAllele": "C",
          "start": 32343197
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32343198C>T",
        "CM000685.2:g.32343198C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32361315,
          "referenceAllele": "C",
          "start": 32361314
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32361315C>T",
        "CM000685.1:g.32361315C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 32271236,
          "referenceAllele": "C",
          "start": 32271235
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32271236C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001412,
          "referenceAllele": "G",
          "start": 1001411
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1001412G>A",
        "LRG_199:g.1001412G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.521G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Cys174Tyr",
        "hgvsWellDefined": "ENSP00000350765.3:p.Cys174Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5912,
          "referenceAllele": "G",
          "start": 5911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Cys1892Tyr",
        "hgvsWellDefined": "ENSP00000354923.3:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5675G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5675G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Cys1892Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Cys1892Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "G",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.1643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Cys548Tyr",
        "hgvsWellDefined": "ENSP00000479270.2:p.Cys548Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5882,
          "referenceAllele": "G",
          "start": 5881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Cys1892Tyr",
        "hgvsWellDefined": "ENSP00000354923.3:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5858,
          "referenceAllele": "G",
          "start": 5857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.5663G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Cys1888Tyr",
        "hgvsWellDefined": "ENSP00000367948.2:p.Cys1888Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 126134,
          "referenceAllele": "G",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 126135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-126135G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000493412.1:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417725.1:p.Cys111Tyr",
        "hgvsWellDefined": "ENSP00000417725.1:p.Cys111Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5663,
          "referenceAllele": "G",
          "start": 5662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.5663G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Cys1888Tyr",
        "hgvsWellDefined": "ENSP00000479270.1:p.Cys1888Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5675,
          "referenceAllele": "G",
          "start": 5674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Cys1892Tyr",
        "hgvsWellDefined": "ENSP00000478150.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5995,
          "referenceAllele": "G",
          "start": 5994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.5651G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Cys1884Tyr",
        "hgvsWellDefined": "NP_000100.2:p.Cys1884Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA308402",
      "coordinates": [
        {
          "allele": "A",
          "end": 5919,
          "referenceAllele": "G",
          "start": 5918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.5675G>A",
        "LRG_199t1:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Cys1892Tyr",
        "hgvsWellDefined": "NP_003997.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829492125",
      "coordinates": [
        {
          "allele": "A",
          "end": 5926,
          "referenceAllele": "G",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.5663G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Cys1888Tyr",
        "hgvsWellDefined": "NP_004000.1:p.Cys1888Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829497568",
      "coordinates": [
        {
          "allele": "A",
          "end": 6009,
          "referenceAllele": "G",
          "start": 6008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.5306G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Cys1769Tyr",
        "hgvsWellDefined": "NP_004001.1:p.Cys1769Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "referenceAllele": "G",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.1652G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Cys551Tyr",
        "hgvsWellDefined": "NP_004002.2:p.Cys551Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1840,
          "referenceAllele": "G",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.1643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Cys548Tyr",
        "hgvsWellDefined": "NP_004003.1:p.Cys548Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_006724531.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5754,
          "referenceAllele": "G",
          "start": 5753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.5651G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Cys1884Tyr",
        "hgvsWellDefined": "XP_006724532.1:p.Cys1884Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_006724533.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_006724534.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5743,
          "referenceAllele": "G",
          "start": 5742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.5546G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Cys1849Tyr",
        "hgvsWellDefined": "XP_006724535.1:p.Cys1849Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5734,
          "referenceAllele": "G",
          "start": 5733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.5537G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Cys1846Tyr",
        "hgvsWellDefined": "XP_006724536.1:p.Cys1846Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_006724537.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_006724538.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5749,
          "referenceAllele": "G",
          "start": 5748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.5552G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Cys1851Tyr",
        "hgvsWellDefined": "XP_011543769.1:p.Cys1851Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_011543770.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_011543771.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5846,
          "referenceAllele": "G",
          "start": 5845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.5651G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Cys1884Tyr",
        "hgvsWellDefined": "XP_006724532.1:p.Cys1884Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_006724533.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_006724537.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_011543770.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_016884817.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_016884818.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5872,
          "referenceAllele": "G",
          "start": 5871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Cys1892Tyr",
        "hgvsWellDefined": "XP_016884819.1:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825073320",
      "coordinates": [
        {
          "allele": "A",
          "end": 5774,
          "referenceAllele": "G",
          "start": 5773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.5651G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Cys1884Tyr",
        "hgvsWellDefined": "NP_000100.3:p.Cys1884Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829485254",
      "coordinates": [
        {
          "allele": "A",
          "end": 5912,
          "referenceAllele": "G",
          "start": 5911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.5675G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Cys1892Tyr",
        "hgvsWellDefined": "NP_003997.2:p.Cys1892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.5675G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.5675G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Cys1892Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Cys1892Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916001797",
      "coordinates": [
        {
          "allele": "A",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.1652G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Cys551Tyr",
        "hgvsWellDefined": "NP_004002.3:p.Cys551Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829501902",
      "coordinates": [
        {
          "allele": "A",
          "end": 1814,
          "referenceAllele": "G",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.1643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Cys548Tyr",
        "hgvsWellDefined": "NP_004003.2:p.Cys548Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}