{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412659092",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.7363G>C (p.Ala2455Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649968[alleleid]",
        "alleleId": 649968,
        "preferredName": "NM_004006.3(DMD):c.7363G>C (p.Ala2455Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644473",
        "RCV": [
          "RCV000798397",
          "RCV001585723"
        ],
        "variationId": 644473
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31792256C>G?assembly=hg19",
        "id": "chrX:g.31792256C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31774139C>G?assembly=hg38",
        "id": "chrX:g.31774139C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1603464017",
        "rs": 1603464017
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31774139-C-G?dataset=gnomad_r4",
        "id": "X-31774139-C-G",
        "variant": "X:31774139 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31774139,
          "referenceAllele": "C",
          "start": 31774138
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31774139C>G",
        "CM000685.2:g.31774139C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31792256,
          "referenceAllele": "C",
          "start": 31792255
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31792256C>G",
        "CM000685.1:g.31792256C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 31702177,
          "referenceAllele": "C",
          "start": 31702176
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31702177C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1570471,
          "referenceAllele": "G",
          "start": 1570470
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1570471G>C",
        "LRG_199:g.1570471G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2209,
          "referenceAllele": "G",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.2209G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Ala737Pro",
        "hgvsWellDefined": "ENSP00000350765.3:p.Ala737Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683117.1:n.1024G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.946G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683851.1:n.1024G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.855G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7600,
          "referenceAllele": "G",
          "start": 7599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ala2455Pro",
        "hgvsWellDefined": "ENSP00000354923.3:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.7363G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.7363G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ala2455Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ala2455Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.3331G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Ala1111Pro",
        "hgvsWellDefined": "ENSP00000479270.2:p.Ala1111Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.1024G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681839.1:c.352G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505228.1:p.Ala118Pro",
        "hgvsWellDefined": "ENSP00000505228.1:p.Ala118Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7570,
          "referenceAllele": "G",
          "start": 7569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ala2455Pro",
        "hgvsWellDefined": "ENSP00000354923.3:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.451G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Ala151Pro",
        "hgvsWellDefined": "ENSP00000350765.2:p.Ala151Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7546,
          "referenceAllele": "G",
          "start": 7545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.7351G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Ala2451Pro",
        "hgvsWellDefined": "ENSP00000367948.2:p.Ala2451Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "G",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000471779.1:c.120G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417075.1:n.120G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7348,
          "referenceAllele": "G",
          "start": 7347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.7348G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Ala2450Pro",
        "hgvsWellDefined": "ENSP00000479270.1:p.Ala2450Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7360,
          "referenceAllele": "G",
          "start": 7359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.7360G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Ala2454Pro",
        "hgvsWellDefined": "ENSP00000478150.1:p.Ala2454Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7683,
          "referenceAllele": "G",
          "start": 7682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.7339G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Ala2447Pro",
        "hgvsWellDefined": "NP_000100.2:p.Ala2447Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916000953",
      "coordinates": [
        {
          "allele": "C",
          "end": 7607,
          "referenceAllele": "G",
          "start": 7606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.7363G>C",
        "LRG_199t1:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Ala2455Pro",
        "hgvsWellDefined": "NP_003997.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829492951",
      "coordinates": [
        {
          "allele": "C",
          "end": 7614,
          "referenceAllele": "G",
          "start": 7613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.7351G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Ala2451Pro",
        "hgvsWellDefined": "NP_004000.1:p.Ala2451Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498204",
      "coordinates": [
        {
          "allele": "C",
          "end": 7697,
          "referenceAllele": "G",
          "start": 7696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.6994G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Ala2332Pro",
        "hgvsWellDefined": "NP_004001.1:p.Ala2332Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3385,
          "referenceAllele": "G",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.3340G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Ala1114Pro",
        "hgvsWellDefined": "NP_004002.2:p.Ala1114Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3528,
          "referenceAllele": "G",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.3331G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Ala1111Pro",
        "hgvsWellDefined": "NP_004003.1:p.Ala1111Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_006724531.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7442,
          "referenceAllele": "G",
          "start": 7441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.7339G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ala2447Pro",
        "hgvsWellDefined": "XP_006724532.1:p.Ala2447Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_006724533.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_006724534.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7431,
          "referenceAllele": "G",
          "start": 7430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.7234G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Ala2412Pro",
        "hgvsWellDefined": "XP_006724535.1:p.Ala2412Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7422,
          "referenceAllele": "G",
          "start": 7421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.7225G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Ala2409Pro",
        "hgvsWellDefined": "XP_006724536.1:p.Ala2409Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_006724537.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_006724538.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7437,
          "referenceAllele": "G",
          "start": 7436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.7240G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Ala2414Pro",
        "hgvsWellDefined": "XP_011543769.1:p.Ala2414Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_011543770.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7534,
          "referenceAllele": "G",
          "start": 7533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.7339G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ala2447Pro",
        "hgvsWellDefined": "XP_006724532.1:p.Ala2447Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_006724533.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_006724537.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_011543770.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Ala2455Pro",
        "hgvsWellDefined": "XP_016884817.1:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2136,
          "referenceAllele": "G",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.1537G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Ala513Pro",
        "hgvsWellDefined": "XP_016884820.1:p.Ala513Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825073955",
      "coordinates": [
        {
          "allele": "C",
          "end": 7462,
          "referenceAllele": "G",
          "start": 7461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.7339G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Ala2447Pro",
        "hgvsWellDefined": "NP_000100.3:p.Ala2447Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573083537",
      "coordinates": [
        {
          "allele": "C",
          "end": 7600,
          "referenceAllele": "G",
          "start": 7599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.7363G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Ala2455Pro",
        "hgvsWellDefined": "NP_003997.2:p.Ala2455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.7363G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.7363G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ala2455Pro"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ala2455Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829499947",
      "coordinates": [
        {
          "allele": "C",
          "end": 3359,
          "referenceAllele": "G",
          "start": 3358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.3340G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Ala1114Pro",
        "hgvsWellDefined": "NP_004002.3:p.Ala1114Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829502537",
      "coordinates": [
        {
          "allele": "C",
          "end": 3502,
          "referenceAllele": "G",
          "start": 3501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.3331G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Ala1111Pro",
        "hgvsWellDefined": "NP_004003.2:p.Ala1111Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.-18G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:n.-18G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}