{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10577170",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.43G>C (p.Asp15His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=231281[alleleid]",
        "alleleId": 231281,
        "preferredName": "NM_004006.3(DMD):c.43G>C (p.Asp15His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228589",
        "RCV": [
          "RCV000215055",
          "RCV001833199",
          "RCV001853444",
          "RCV002327086"
        ],
        "variationId": 228589
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.33038306C>G?assembly=hg19",
        "id": "chrX:g.33038306C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.33020189C>G?assembly=hg38",
        "id": "chrX:g.33020189C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876657780",
        "rs": 876657780
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-33038306-C-G?dataset=gnomad_r2_1",
        "id": "X-33038306-C-G",
        "variant": "X:33038306 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-33020189-C-G?dataset=gnomad_r3",
        "id": "X-33020189-C-G",
        "variant": "X:33020189 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-33020189-C-G?dataset=gnomad_r4",
        "id": "X-33020189-C-G",
        "variant": "X:33020189 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 33020189,
          "referenceAllele": "C",
          "start": 33020188
        }
      ],
      "hgvs": [
        "NC_000023.11:g.33020189C>G",
        "CM000685.2:g.33020189C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 33038306,
          "referenceAllele": "C",
          "start": 33038305
        }
      ],
      "hgvs": [
        "NC_000023.10:g.33038306C>G",
        "CM000685.1:g.33038306C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32948227,
          "referenceAllele": "C",
          "start": 32948226
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32948227C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324421,
          "referenceAllele": "G",
          "start": 324420
        }
      ],
      "hgvs": [
        "NG_012232.1:g.324421G>C",
        "LRG_199:g.324421G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682071.1:c.-327G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508133.1:n.-327G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682307.1:n.227G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682437.1:n.227G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682439.1:n.227G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827429"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682584.1:n.227G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682870.1:n.228G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.250G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682924.1:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508187.1:p.Asp15His",
        "hgvsWellDefined": "ENSP00000508187.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683309.1:n.227G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683658.1:n.388G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.250G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684056.1:n.227G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684165.1:n.250G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684237.1:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507277.1:p.Asp15His",
        "hgvsWellDefined": "ENSP00000507277.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684292.1:n.250G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "G",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684357.1:n.227G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829312"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684660.1:n.228G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.9:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Asp7His",
        "hgvsWellDefined": "ENSP00000288447.4:p.Asp7His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asp15His",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.43G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.43G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp15His"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp15His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195,
          "referenceAllele": "G",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.8:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Asp7His",
        "hgvsWellDefined": "ENSP00000288447.4:p.Asp7His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Asp15His",
        "hgvsWellDefined": "ENSP00000354923.3:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 226,
          "referenceAllele": "G",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.31G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Asp11His",
        "hgvsWellDefined": "ENSP00000367948.2:p.Asp11His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "G",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:p.Asp15His",
        "hgvsWellDefined": "ENSP00000399897.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "G",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:p.Asp15His",
        "hgvsWellDefined": "ENSP00000388559.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000472266.1:n.377G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88,
          "referenceAllele": "G",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000472681.1:n.88G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.285G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31,
          "referenceAllele": "G",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.31G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Asp11His",
        "hgvsWellDefined": "ENSP00000479270.1:p.Asp11His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43,
          "referenceAllele": "G",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Asp15His",
        "hgvsWellDefined": "ENSP00000478150.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Asp7His",
        "hgvsWellDefined": "NP_000100.2:p.Asp7His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645479559",
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "referenceAllele": "G",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.43G>C",
        "LRG_199t1:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Asp15His",
        "hgvsWellDefined": "NP_003997.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829488106",
      "coordinates": [
        {
          "allele": "C",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.31G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Asp11His",
        "hgvsWellDefined": "NP_004000.1:p.Asp11His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.-327G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:n.-327G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724531.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "G",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asp7His",
        "hgvsWellDefined": "XP_006724532.1:p.Asp7His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724533.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724534.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724535.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724536.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724537.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724538.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Asp15His",
        "hgvsWellDefined": "XP_011543769.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Asp15His",
        "hgvsWellDefined": "XP_011543770.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Asp15His",
        "hgvsWellDefined": "XP_011543771.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 214,
          "referenceAllele": "G",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Asp7His",
        "hgvsWellDefined": "XP_006724532.1:p.Asp7His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724533.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Asp15His",
        "hgvsWellDefined": "XP_006724537.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Asp15His",
        "hgvsWellDefined": "XP_011543770.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Asp15His",
        "hgvsWellDefined": "XP_016884817.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Asp15His",
        "hgvsWellDefined": "XP_016884818.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Asp15His",
        "hgvsWellDefined": "XP_016884819.1:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957365",
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.19G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Asp7His",
        "hgvsWellDefined": "NP_000100.3:p.Asp7His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829482088",
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.43G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Asp15His",
        "hgvsWellDefined": "NP_003997.2:p.Asp15His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.43G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.43G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Asp15His"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Asp15His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}