{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA328487806",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415776[alleleid]",
        "alleleId": 415776,
        "preferredName": "NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426608",
        "RCV": [
          "RCV000489867",
          "RCV001203049",
          "RCV001834589",
          "RCV002376894"
        ],
        "variationId": 426608
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31950327T>C?assembly=hg19",
        "id": "chrX:g.31950327T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31932210T>C?assembly=hg38",
        "id": "chrX:g.31932210T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/900089672",
        "rs": 900089672
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31932210-T-C?dataset=gnomad_r3",
        "id": "X-31932210-T-C",
        "variant": "X:31932210 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31932210-T-C?dataset=gnomad_r4",
        "id": "X-31932210-T-C",
        "variant": "X:31932210 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31932210,
          "referenceAllele": "T",
          "start": 31932209
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31932210T>C",
        "CM000685.2:g.31932210T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31950327,
          "referenceAllele": "T",
          "start": 31950326
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31950327T>C",
        "CM000685.1:g.31950327T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 31860248,
          "referenceAllele": "T",
          "start": 31860247
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31860248T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412400,
          "referenceAllele": "A",
          "start": 1412399
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1412400A>G",
        "LRG_199:g.1412400A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1478,
          "referenceAllele": "A",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.1478A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Asn493Ser",
        "hgvsWellDefined": "ENSP00000350765.3:p.Asn493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682135.1:n.293A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683117.1:n.293A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.293A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683851.1:n.293A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "referenceAllele": "A",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.124A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6869,
          "referenceAllele": "A",
          "start": 6868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asn2211Ser",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.6632A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.6632A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asn2211Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asn2211Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2780,
          "referenceAllele": "A",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.2600A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Asn867Ser",
        "hgvsWellDefined": "ENSP00000479270.2:p.Asn867Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.293A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6839,
          "referenceAllele": "A",
          "start": 6838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asn2211Ser",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6815,
          "referenceAllele": "A",
          "start": 6814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.6620A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Asn2207Ser",
        "hgvsWellDefined": "ENSP00000367948.2:p.Asn2207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.677A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6617,
          "referenceAllele": "A",
          "start": 6616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.6617A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Asn2206Ser",
        "hgvsWellDefined": "ENSP00000479270.1:p.Asn2206Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6629,
          "referenceAllele": "A",
          "start": 6628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.6629A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Asn2210Ser",
        "hgvsWellDefined": "ENSP00000478150.1:p.Asn2210Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6952,
          "referenceAllele": "A",
          "start": 6951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.6608A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Asn2203Ser",
        "hgvsWellDefined": "NP_000100.2:p.Asn2203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483496",
      "coordinates": [
        {
          "allele": "G",
          "end": 6876,
          "referenceAllele": "A",
          "start": 6875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.6632A>G",
        "LRG_199t1:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Asn2211Ser",
        "hgvsWellDefined": "NP_003997.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829492650",
      "coordinates": [
        {
          "allele": "G",
          "end": 6883,
          "referenceAllele": "A",
          "start": 6882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.6620A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Asn2207Ser",
        "hgvsWellDefined": "NP_004000.1:p.Asn2207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829497954",
      "coordinates": [
        {
          "allele": "G",
          "end": 6966,
          "referenceAllele": "A",
          "start": 6965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.6263A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Asn2088Ser",
        "hgvsWellDefined": "NP_004001.1:p.Asn2088Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2654,
          "referenceAllele": "A",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.2609A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Asn870Ser",
        "hgvsWellDefined": "NP_004002.2:p.Asn870Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2797,
          "referenceAllele": "A",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.2600A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Asn867Ser",
        "hgvsWellDefined": "NP_004003.1:p.Asn867Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_006724531.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6711,
          "referenceAllele": "A",
          "start": 6710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.6608A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asn2203Ser",
        "hgvsWellDefined": "XP_006724532.1:p.Asn2203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_006724533.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_006724534.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6700,
          "referenceAllele": "A",
          "start": 6699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.6503A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Asn2168Ser",
        "hgvsWellDefined": "XP_006724535.1:p.Asn2168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6691,
          "referenceAllele": "A",
          "start": 6690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.6494A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Asn2165Ser",
        "hgvsWellDefined": "XP_006724536.1:p.Asn2165Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_006724537.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_006724538.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6706,
          "referenceAllele": "A",
          "start": 6705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.6509A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Asn2170Ser",
        "hgvsWellDefined": "XP_011543769.1:p.Asn2170Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_011543770.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6803,
          "referenceAllele": "A",
          "start": 6802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.6608A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asn2203Ser",
        "hgvsWellDefined": "XP_006724532.1:p.Asn2203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_006724533.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_006724537.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_011543770.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6829,
          "referenceAllele": "A",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Asn2211Ser",
        "hgvsWellDefined": "XP_016884817.1:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1405,
          "referenceAllele": "A",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.806A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Asn269Ser",
        "hgvsWellDefined": "XP_016884820.1:p.Asn269Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825073706",
      "coordinates": [
        {
          "allele": "G",
          "end": 6731,
          "referenceAllele": "A",
          "start": 6730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.6608A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Asn2203Ser",
        "hgvsWellDefined": "NP_000100.3:p.Asn2203Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829486048",
      "coordinates": [
        {
          "allele": "G",
          "end": 6869,
          "referenceAllele": "A",
          "start": 6868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.6632A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Asn2211Ser",
        "hgvsWellDefined": "NP_003997.2:p.Asn2211Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.6632A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.6632A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asn2211Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asn2211Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002104",
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "referenceAllele": "A",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.2609A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Asn870Ser",
        "hgvsWellDefined": "NP_004002.3:p.Asn870Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829502288",
      "coordinates": [
        {
          "allele": "G",
          "end": 2771,
          "referenceAllele": "A",
          "start": 2770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.2600A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Asn867Ser",
        "hgvsWellDefined": "NP_004003.2:p.Asn867Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.-749A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:n.-749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}