{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346888",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.572C>G (p.Ser191Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195665[alleleid]",
        "alleleId": 195665,
        "preferredName": "NM_004006.3(DMD):c.572C>G (p.Ser191Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198504",
        "RCV": [
          "RCV000179871"
        ],
        "variationId": 198504
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32827687G>C?assembly=hg19",
        "id": "chrX:g.32827687G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32809570G>C?assembly=hg38",
        "id": "chrX:g.32809570G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794727863",
        "rs": 794727863
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32809570,
          "referenceAllele": "G",
          "start": 32809569
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32809570G>C",
        "CM000685.2:g.32809570G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32827687,
          "referenceAllele": "G",
          "start": 32827686
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32827687G>C",
        "CM000685.1:g.32827687G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 32737608,
          "referenceAllele": "G",
          "start": 32737607
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32737608G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535040,
          "referenceAllele": "C",
          "start": 535039
        }
      ],
      "hgvs": [
        "NG_012232.1:g.535040C>G",
        "LRG_199:g.535040C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682071.1:c.203C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508133.1:p.Ser68Ter",
        "hgvsWellDefined": "ENSP00000508133.1:p.Ser68_Phe524del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682437.1:n.896C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682870.1:n.757C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.779C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682924.1:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508187.1:p.Ser191Ter",
        "hgvsWellDefined": "ENSP00000508187.1:p.Ser191_Ile449delinsAlaThrGlnArgLeuGluHisAlaPheAsnIleAlaArgTyrGlnLeuGlyIleGluLysLeuLeuAspProGluAspValAspThrThrTyrProAspLysLysSerIleLeuMetTyrIleThrSerLeuPheGlnValLeuProGlnGlnValSerIleGluAlaIleGlnGluValGluMetLeuProArgProProLysValThrLysGluGluHisPheGlnLeuHisHisGlnMetHisTyrSerGlnGlnIleThrValSerLeuAlaGlnGlyTyrGluArgThrSerSerProLysProArgPheLysSerTyrAlaTyrThrGlnAlaAlaTyrValThrThrSerAspProThrArgSerProPheProSerGlnHisLeuGluAlaProGluAspLysSerPheGlySerSerLeuMetGluSerGluValAsnLeuAspArgTyrGlnThrAlaLeuGluGluValLeuSerTrpLeuLeuSerAlaGluAspThrLeuGlnAlaGlnGlyGluIleSerAsnAspValGluValValLysAspGlnPheHisThrHisGluGlyTyrMetMetAspLeuThrAlaHisGlnGlyArgValGlyAsnIleLeuGlnLeuGlySerLysLeuIleGlyThrGlyLysLeuSerGluAspGluGluThrGluValGlnGluGlnMetAsnLeuLeuAsnSerArgTrpGluCysLeuArgValAlaSerMetGluLysGlnSerLysCysPheLysLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683309.1:n.756C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683658.1:n.917C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.779C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684056.1:n.756C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684165.1:n.779C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684237.1:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507277.1:p.Ser191Ter",
        "hgvsWellDefined": "ENSP00000507277.1:p.Ser191_Lys491del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684292.1:n.779C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684660.1:n.757C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 892,
          "referenceAllele": "C",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.9:c.548C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Ser183Ter",
        "hgvsWellDefined": "ENSP00000288447.4:p.Ser183_Leu772delinsAlaThrGlnArgLeuGluHisAlaPheAsnIleAlaArgTyrGlnLeuGlyIleGluLysLeuLeuAspProGluAspValAspThrThrTyrProAspLysLysSerIleLeuMetTyrIleThrSerLeuPheGlnValLeuProGlnGlnValSerIleGluAlaIleGlnGluValGluMetLeuProArgProProLysValThrLysGluGluHisPheGlnLeuHisHisGlnMetHisTyrSerGlnGlnIleThrValSerLeuAlaGlnGlyTyrGluArgThrSerSerProLysProArgPheLysSerTyrAlaTyrThrGlnAlaAlaTyrValThrThrSerAspProThrArgSerProPheProSerGlnHisLeuGluAlaProGluAspLysSerPheGlySerSerLeuMetGluSerGluValAsnLeuAspArgTyrGlnThrAlaLeuGluGluValLeuSerTrpLeuLeuSerAlaGluAspThrLeuGlnAlaGlnGlyGluIleSerAsnAspValGluValValLysAspGlnPheHisThrHisGluGlyTyrMetMetAspLeuThrAlaHisGlnGlyArgValGlyAsnIleLeuGlnLeuGlySerLysLeuIleGlyThrGlyLysLeuSerGluAspGluGluThrGluValGlnGluGlnMetAsnLeuLeuAsnSerArgTrpGluCysLeuArgValAlaSerMetGluLysGlnSerAsnLeuHisArgValLeuMetAspLeuGlnAsnGlnLysLeuLysGluLeuAsnAspTrpLeuThrLysThrGluGluArgThrArgLysMetGluGluGluProLeuGlyProAspLeuGluAspLeuLysArgGlnValGlnGlnHisLysValLeuGlnGluAspLeuGluGlnGluGlnValArgValAsnSerLeuThrHisMetValValValValAspGluSerSerGlyAspHisAlaThrAlaAlaLeuGluGluGlnLeuLysValLeuGlyAspArgTrpAlaAsnIleCysArgTrpThrGluAspArgTrpValLeuLeuGlnAspIleLeuLeuLysTrpGlnArgLeuThrGluGluGlnCysLeuPheSerAlaTrpLeuSerGluLysGluAspAlaValAsnLysIleHisThrThrGlyPheLysAspGlnAsnGluMetLeuSerSerLeuGlnLysLeuAlaValLeuLysAlaAspLeuGluLysLysLysGlnSerMetGlyLysLeuTyrSerLeuLysGlnAspLeuLeuSerThrLeuLysAsnLysSerValThrGlnLysThrGluAlaTrpLeuAspAsnPheAlaArgCysTrpAspAsnLeuValGlnLysLeuGluLysSerThrAlaGlnIleSerGlnAlaValThrThrThrGlnProSerLeuThrGlnThrThrValMetGluThrValThrThrValThrThrArgGluGlnIleLeuValLysHisAlaGlnGluGluLeuProProProProProGlnLysLysArgGlnIleThrValAspSerGluIleArgLysArgLeuAspValAspIleThrGluLeuHisSerTrpIleThrArgSerGluAlaValLeuGlnSerProGluPheAlaIlePheArgLysGluGlyAsnPheSerAspLeuLysGluLysValAsnValGlyTyrAlaLeuIlePheIleSerValLeuIleLeuCysCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.572C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.572C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ser191Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ser191Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000288447.8:c.548C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288447.4:p.Ser183Ter",
        "hgvsWellDefined": "ENSP00000288447.4:p.Ser183_Leu772delinsAlaThrGlnArgLeuGluHisAlaPheAsnIleAlaArgTyrGlnLeuGlyIleGluLysLeuLeuAspProGluAspValAspThrThrTyrProAspLysLysSerIleLeuMetTyrIleThrSerLeuPheGlnValLeuProGlnGlnValSerIleGluAlaIleGlnGluValGluMetLeuProArgProProLysValThrLysGluGluHisPheGlnLeuHisHisGlnMetHisTyrSerGlnGlnIleThrValSerLeuAlaGlnGlyTyrGluArgThrSerSerProLysProArgPheLysSerTyrAlaTyrThrGlnAlaAlaTyrValThrThrSerAspProThrArgSerProPheProSerGlnHisLeuGluAlaProGluAspLysSerPheGlySerSerLeuMetGluSerGluValAsnLeuAspArgTyrGlnThrAlaLeuGluGluValLeuSerTrpLeuLeuSerAlaGluAspThrLeuGlnAlaGlnGlyGluIleSerAsnAspValGluValValLysAspGlnPheHisThrHisGluGlyTyrMetMetAspLeuThrAlaHisGlnGlyArgValGlyAsnIleLeuGlnLeuGlySerLysLeuIleGlyThrGlyLysLeuSerGluAspGluGluThrGluValGlnGluGlnMetAsnLeuLeuAsnSerArgTrpGluCysLeuArgValAlaSerMetGluLysGlnSerAsnLeuHisArgValLeuMetAspLeuGlnAsnGlnLysLeuLysGluLeuAsnAspTrpLeuThrLysThrGluGluArgThrArgLysMetGluGluGluProLeuGlyProAspLeuGluAspLeuLysArgGlnValGlnGlnHisLysValLeuGlnGluAspLeuGluGlnGluGlnValArgValAsnSerLeuThrHisMetValValValValAspGluSerSerGlyAspHisAlaThrAlaAlaLeuGluGluGlnLeuLysValLeuGlyAspArgTrpAlaAsnIleCysArgTrpThrGluAspArgTrpValLeuLeuGlnAspIleLeuLeuLysTrpGlnArgLeuThrGluGluGlnCysLeuPheSerAlaTrpLeuSerGluLysGluAspAlaValAsnLysIleHisThrThrGlyPheLysAspGlnAsnGluMetLeuSerSerLeuGlnLysLeuAlaValLeuLysAlaAspLeuGluLysLysLysGlnSerMetGlyLysLeuTyrSerLeuLysGlnAspLeuLeuSerThrLeuLysAsnLysSerValThrGlnLysThrGluAlaTrpLeuAspAsnPheAlaArgCysTrpAspAsnLeuValGlnLysLeuGluLysSerThrAlaGlnIleSerGlnAlaValThrThrThrGlnProSerLeuThrGlnThrThrValMetGluThrValThrThrValThrThrArgGluGlnIleLeuValLysHisAlaGlnGluGluLeuProProProProProGlnLysLysArgGlnIleThrValAspSerGluIleArgLysArgLeuAspValAspIleThrGluLeuHisSerTrpIleThrArgSerGluAlaValLeuGlnSerProGluPheAlaIlePheArgLysGluGlyAsnPheSerAspLeuLysGluLysValAsnValGlyTyrAlaLeuIlePheIleSerValLeuIleLeuCysCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.560C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Ser187Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 210569,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 210568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.93+210569C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.93+210569C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "endIntronDirection": "+",
          "endIntronOffset": 13725,
          "referenceAllele": "C",
          "start": 246,
          "startIntronDirection": "+",
          "startIntronOffset": 13724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000447523.1:c.246+13725C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395904.1:n.246+13725C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 210569,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 210568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.93+210569C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.93+210569C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 6898,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 6897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000480751.1:n.86+6898C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "endIntronDirection": "+",
          "endIntronOffset": 210569,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "+",
          "startIntronOffset": 210568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.335+210569C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.560C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Ser187Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 892,
          "referenceAllele": "C",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.548C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Ser183Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "C",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.572C>G",
        "LRG_199t1:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.560C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Ser187Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.203C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Ser68Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.548C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ser183Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.548C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Ser183Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.548C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Ser183Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.572C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Ser191Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.572C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.572C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Ser191Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Ser191Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}