{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10379146",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1190522",
        "active": true,
        "id": "COSM1190522"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1190523",
        "active": true,
        "id": "COSM1190523"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1190524",
        "active": true,
        "id": "COSM1190524"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415778[alleleid]",
        "alleleId": 415778,
        "preferredName": "NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426582",
        "RCV": [
          "RCV000490004",
          "RCV001242084",
          "RCV001273878",
          "RCV002475963"
        ],
        "variationId": 426582
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-32456476-T-C",
        "id": "X-32456476-T-C",
        "variant": "X:32456476 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32456476T>C?assembly=hg19",
        "id": "chrX:g.32456476T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32438359T>C?assembly=hg38",
        "id": "chrX:g.32438359T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759820971",
        "rs": 759820971
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32456476-T-C?dataset=gnomad_r2_1",
        "id": "X-32456476-T-C",
        "variant": "X:32456476 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32438359-T-C?dataset=gnomad_r4",
        "id": "X-32438359-T-C",
        "variant": "X:32438359 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32438359,
          "referenceAllele": "T",
          "start": 32438358
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32438359T>C",
        "CM000685.2:g.32438359T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32456476,
          "referenceAllele": "T",
          "start": 32456475
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32456476T>C",
        "CM000685.1:g.32456476T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32366397,
          "referenceAllele": "T",
          "start": 32366396
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32366397T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 906251,
          "referenceAllele": "A",
          "start": 906250
        }
      ],
      "hgvs": [
        "NG_012232.1:g.906251A>G",
        "LRG_199:g.906251A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4190,
          "referenceAllele": "A",
          "start": 4189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asp1318Gly",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.3953A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.3953A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp1318Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp1318Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4160,
          "referenceAllele": "A",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asp1318Gly",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4136,
          "referenceAllele": "A",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.3941A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Asp1314Gly",
        "hgvsWellDefined": "ENSP00000367948.2:p.Asp1314Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 73159,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 73160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-73160A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-73160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 73648,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 73649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-73649A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-73649A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 221295,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 221296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-221296A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3941,
          "referenceAllele": "A",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.3941A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Asp1314Gly",
        "hgvsWellDefined": "ENSP00000479270.1:p.Asp1314Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3953,
          "referenceAllele": "A",
          "start": 3952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Asp1318Gly",
        "hgvsWellDefined": "ENSP00000478150.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4273,
          "referenceAllele": "A",
          "start": 4272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.3929A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Asp1310Gly",
        "hgvsWellDefined": "NP_000100.2:p.Asp1310Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645482093",
      "coordinates": [
        {
          "allele": "G",
          "end": 4197,
          "referenceAllele": "A",
          "start": 4196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.3953A>G",
        "LRG_199t1:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Asp1318Gly",
        "hgvsWellDefined": "NP_003997.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829491133",
      "coordinates": [
        {
          "allele": "G",
          "end": 4204,
          "referenceAllele": "A",
          "start": 4203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.3941A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Asp1314Gly",
        "hgvsWellDefined": "NP_004000.1:p.Asp1314Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829496766",
      "coordinates": [
        {
          "allele": "G",
          "end": 4287,
          "referenceAllele": "A",
          "start": 4286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.3584A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Asp1195Gly",
        "hgvsWellDefined": "NP_004001.1:p.Asp1195Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_006724531.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4032,
          "referenceAllele": "A",
          "start": 4031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.3929A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asp1310Gly",
        "hgvsWellDefined": "XP_006724532.1:p.Asp1310Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_006724533.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_006724534.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4021,
          "referenceAllele": "A",
          "start": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.3824A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Asp1275Gly",
        "hgvsWellDefined": "XP_006724535.1:p.Asp1275Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_006724536.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_006724537.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_006724538.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_011543769.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_011543770.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_011543771.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4124,
          "referenceAllele": "A",
          "start": 4123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.3929A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asp1310Gly",
        "hgvsWellDefined": "XP_006724532.1:p.Asp1310Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_006724533.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_006724537.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_011543770.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_016884817.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_016884818.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Asp1318Gly",
        "hgvsWellDefined": "XP_016884819.1:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825072519",
      "coordinates": [
        {
          "allele": "G",
          "end": 4052,
          "referenceAllele": "A",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.3929A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Asp1310Gly",
        "hgvsWellDefined": "NP_000100.3:p.Asp1310Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573083940",
      "coordinates": [
        {
          "allele": "G",
          "end": 4190,
          "referenceAllele": "A",
          "start": 4189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.3953A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Asp1318Gly",
        "hgvsWellDefined": "NP_003997.2:p.Asp1318Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.3953A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.3953A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp1318Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp1318Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}