{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347538",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213869[alleleid]",
        "alleleId": 213869,
        "preferredName": "NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217192",
        "RCV": [
          "RCV000201111"
        ],
        "variationId": 217192
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32486786G>C?assembly=hg19",
        "id": "chrX:g.32486786G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32468669G>C?assembly=hg38",
        "id": "chrX:g.32468669G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863224992",
        "rs": 863224992
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32468669,
          "referenceAllele": "G",
          "start": 32468668
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32468669G>C",
        "CM000685.2:g.32468669G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32486786,
          "referenceAllele": "G",
          "start": 32486785
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32486786G>C",
        "CM000685.1:g.32486786G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32396707,
          "referenceAllele": "G",
          "start": 32396706
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32396707G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875941,
          "referenceAllele": "C",
          "start": 875940
        }
      ],
      "hgvs": [
        "NG_012232.1:g.875941C>G",
        "LRG_199:g.875941C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3198,
          "referenceAllele": "C",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.3198C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3228,
          "referenceAllele": "C",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2991C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2991C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Tyr997Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Tyr997Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3198,
          "referenceAllele": "C",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3174,
          "referenceAllele": "C",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.2979C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Tyr993Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 103469,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 103470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-103470C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-103470C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 103958,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 103959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-103959C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-103959C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 251605,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 251606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-251606C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2979,
          "referenceAllele": "C",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.2979C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Tyr993Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2991,
          "referenceAllele": "C",
          "start": 2990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3311,
          "referenceAllele": "C",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.2967C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Tyr989Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3235,
          "referenceAllele": "C",
          "start": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.2991C>G",
        "LRG_199t1:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3242,
          "referenceAllele": "C",
          "start": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.2979C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Tyr993Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3325,
          "referenceAllele": "C",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.2622C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Tyr874Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3070,
          "referenceAllele": "C",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.2967C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Tyr989Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3059,
          "referenceAllele": "C",
          "start": 3058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.2862C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Tyr954Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Tyr997Ter",
        "hgvsWellDefined": "XP_011543771.1:p.Tyr998_Asn1915delinsLeuSerThrThrValLysGluMetSerLysLysAlaProSerGluIleSerArgLysTyrGlnSerGluPheGluGluIleGluGlyArgTrpLysLysLeuSerSerGlnLeuValGluHisCysGlnLysLeuGluGluGlnMetAsnLysLeuArgLysIleGlnAsnHisIleGlnThrLeuLysLysTrpMetAlaGluValAspValPheLeuLysGluGluTrpProAlaLeuGlyAspSerGluIleLeuLysLysGlnLeuLysGlnCysArgLeuLeuValSerAspIleGlnThrIleGlnProSerLeuAsnSerValAsnGluGlyGlyGlnLysIleLysAsnGluAlaGluProGluPheAlaSerArgLeuGluThrGluLeuLysGluLeuAsnThrGlnTrpAspHisMetCysGlnGlnValTyrAlaArgLysGluAlaLeuLysGlyGlyLeuGluLysThrValSerLeuGlnLysAspLeuSerGluMetHisGluTrpMetThrGlnAlaGluGluGluTyrLeuGluArgAspPheGluTyrLysThrProAspGluLeuGlnLysAlaValGluGluMetLysArgAlaLysGluGluAlaGlnGlnLysGluAlaLysValLysLeuLeuThrGluSerValAsnSerValIleAlaGlnAlaProProValAlaGlnGluAlaLeuLysLysGluLeuGluThrLeuThrThrAsnTyrGlnTrpLeuCysThrArgLeuAsnGlyLysCysLysThrLeuGluGluValTrpAlaCysTrpHisGluLeuLeuSerTyrLeuGluLysAlaAsnLysTrpLeuAsnGluValGluPheLysLeuLysThrThrGluAsnIleProGlyGlyAlaGluGluIleSerGluValLeuAspSerLeuGluAsnLeuMetArgHisSerGluAspAsnProAsnGlnIleArgIleLeuAlaGlnThrLeuThrAspGlyGlyValMetAspGluLeuIleAsnGluGluLeuGluThrPheAsnSerArgTrpArgGluLeuHisGluGluAlaValArgArgGlnLysLeuLeuGluGlnSerIleGlnSerAlaGlnGluThrGluLysSerLeuHisLeuIleGlnGluSerLeuThrPheIleAspLysGlnLeuAlaAlaTyrIleAlaAspLysValAspAlaAlaGlnMetProGlnGluAlaGlnLysIleGlnSerAspLeuThrSerHisGluIleSerLeuGluGluMetLysLysHisAsnGlnGlyLysGluAlaAlaGlnArgValLeuSerGlnIleAspValAlaGlnLysLysLeuGlnAspValSerMetLysPheArgLeuPheGlnLysProAlaAsnPheGluGlnArgLeuGlnGluSerLysMetIleLeuAspGluValLysMetHisLeuProAlaLeuGluThrLysSerValGluGlnGluValValGlnSerGlnLeuAsnHisCysValAsnLeuTyrLysSerLeuSerGluValLysSerGluValGluMetValIleLysThrGlyArgGlnIleValGlnLysLysGlnThrGluAsnProLysGluLeuAspGluArgValThrAlaLeuLysLeuHisTyrAsnGluLeuGlyAlaLysValThrGluArgLysGlnGlnLeuGluLysCysLeuLysLeuSerArgLysMetArgLysGluMetAsnValLeuThrGluTrpLeuAlaAlaThrAspMetGluLeuThrLysArgSerAlaValGluGlyMetProSerAsnLeuAspSerGluValAlaTrpGlyLysAlaThrGlnLysGluIleGluLysGlnLysValHisLeuLysSerIleThrGluValGlyGluAlaLeuLysThrValLeuGlyLysLysGluThrLeuValGluAspLysLeuSerLeuLeuAsnSerAsnTrpIleAlaValThrSerArgAlaGluGluTrpLeuAsnLeuLeuLeuGluTyrGlnLysHisMetGluThrPheAspGlnAsnValAspHisIleThrLysTrpIleIleGlnAlaAspThrLeuLeuAspGluSerGluLysLysLysProGlnGlnLysGluAspValLeuLysArgLeuLysAlaGluLeuAsnAspIleArgProLysValAspSerThrArgAspGlnAlaAlaAsnLeuMetAlaAsnArgGlyAspHisCysArgLysLeuValGluProGlnIleSerGluLeuAsnHisArgPheAlaAlaIleSerHisArgIleLysThrGlyLysAlaSerIleProLeuLysGluLeuGluGlnPheAsnSerAspIleGlnLysLeuLeuGluProLeuGluAlaGluIleGlnGlnGlyValAsnLeuLysGluGluAspPheAsnLysAspMetAsnGluAspAsnGluGlyThrValLysGluLeuLeuGlnArgGlyAspAsnLeuGlnGlnArgIleThrAspGluArgLysArgGluGluIleLysIleLysGlnGlnLeuLeuGlnThrLysHisAsnAlaLeuLysAspLeuArgSerGlnArgArgLysLysAlaLeuGluIleSerHisGlnTrpTyrGlnTyrLysArgGlnAlaAspAspLeuLeuLysCysLeuAspAspIleGluLysLysLeuAlaSerLeuProGluProArgAspGluArgLysIleLysMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.2967C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Tyr989Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3188,
          "referenceAllele": "C",
          "start": 3187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.2967C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Tyr989Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3228,
          "referenceAllele": "C",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.2991C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Tyr997Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2991C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2991C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Tyr997Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Tyr997Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}