{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10581489",
  "communityStandardTitle": [
    "NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237539[alleleid]",
        "alleleId": 237539,
        "preferredName": "NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235909",
        "RCV": [
          "RCV000224990",
          "RCV000254959",
          "RCV001854779"
        ],
        "variationId": 235909
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.28659816G>A?assembly=hg19",
        "id": "chr18:g.28659816G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31079850G>A?assembly=hg38",
        "id": "chr18:g.31079850G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878853170",
        "rs": 878853170
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    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-28659816-G-A?dataset=gnomad_r2_1",
        "id": "18-28659816-G-A",
        "variant": "18:28659816 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31079850-G-A?dataset=gnomad_r4",
        "id": "18-31079850-G-A",
        "variant": "18:31079850 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 31079850,
          "referenceAllele": "G",
          "start": 31079849
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31079850G>A",
        "CM000680.2:g.31079850G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 28659816,
          "referenceAllele": "G",
          "start": 28659815
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28659816G>A",
        "CM000680.1:g.28659816G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 26913814,
          "referenceAllele": "G",
          "start": 26913813
        }
      ],
      "hgvs": [
        "NC_000018.8:g.26913814G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27576,
          "referenceAllele": "C",
          "start": 27575
        }
      ],
      "hgvs": [
        "NG_008208.2:g.27576C>T",
        "LRG_400:g.27576C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000949"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "ENST00000682357.1:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507826.1:p.Gln411Ter",
        "hgvsWellDefined": "ENSP00000507826.1:p.Gln411_Arg758delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
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      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000251081.6:p.Gln554_Asn847delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluGluSerIleArgGlyHisThrLeuIleLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
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      "geneNCBI_id": 1824,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000280904.6:p.Gln554_Arg901delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743583",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.1660C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.1660C>T"
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        },
        "protein": {
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            "hgvs": "ENSP00000280904.6:p.Gln554Ter"
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          "RefSeq": {
            "hgvs": "NP_077740.1:p.Gln554Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1715,
          "referenceAllele": "C",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000497441.1:p.Gln411_Arg758delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
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      "geneSymbol": "DSC2",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000251081.6:p.Gln554_Asn847delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluGluSerIleArgGlyHisThrLeuIleLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2104,
          "referenceAllele": "C",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829553342",
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "C",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.4:c.1660C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_004940.1:p.Gln554_Asn847delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluGluSerIleArgGlyHisThrLeuIleLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645378911",
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "C",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.4:c.1660C>T"
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      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Gln554Ter",
        "hgvsWellDefined": "NP_077740.1:p.Gln554_Arg901delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1632,
          "referenceAllele": "C",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005258263.1:p.Gln411_Arg758delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "XM_005258206.4:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258263.1:p.Gln411Ter",
        "hgvsWellDefined": "XP_005258263.1:p.Gln411_Arg758delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829553342",
      "coordinates": [
        {
          "allele": "T",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_004949.5:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004940.1:p.Gln554Ter",
        "hgvsWellDefined": "NP_004940.1:p.Gln554_Asn847delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluGluSerIleArgGlyHisThrLeuIleLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645378911",
      "coordinates": [
        {
          "allele": "T",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NM_024422.6:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077740.1:p.Gln554Ter",
        "hgvsWellDefined": "NP_077740.1:p.Gln554_Arg901delinsGlyGlyArgThrCysThrGlyThrLeuGlyIleIleLeuGlnAspValAsnAspAsnSerProPheIleProLysLysThrValIleIleCysLysProThrMetSerSerAlaGluIleValAlaValAspProAspGluProIleHisGlyProProPheAspPheSerLeuGluSerSerThrSerGluValGlnArgMetTrpArgLeuLysAlaIleAsnAspThrAlaAlaArgLeuSerTyrGlnAsnAspProProPheGlySerTyrValValProIleThrValArgAspArgLeuGlyMetSerSerValThrSerLeuAspValThrLeuCysAspCysIleThrGluAsnAspCysThrHisArgValAspProArgIleGlyGlyGlyGlyValGlnLeuGlyLysTrpAlaIleLeuAlaIleLeuLeuGlyIleAlaLeuLeuPheCysIleLeuPheThrLeuValCysGlyAlaSerGlyThrSerLysGlnProLysValIleProAspAspLeuAlaGlnGlnAsnLeuIleValSerAsnThrGluAlaProGlyAspAspLysValTyrSerAlaAsnGlyPheThrThrGlnThrValGlyAlaSerAlaGlnGlyValCysGlyThrValGlySerGlyIleLysAsnGlyGlyGlnGluThrIleGluMetValLysGlyGlyHisGlnThrSerGluSerCysArgGlyAlaGlyHisHisHisThrLeuAspSerCysArgGlyGlyHisThrGluValAspAsnCysArgTyrThrTyrSerGluTrpHisSerPheThrGlnProArgLeuGlyGluLysValTyrLeuCysAsnGlnAspGluAsnHisLysHisAlaGlnAspTyrValLeuThrTyrAsnTyrGluGlyArgGlySerValAlaGlySerValGlyCysCysSerGluArgGlnGluGluAspGlyLeuGluPheLeuAspAsnLeuGluProLysPheArgThrLeuAlaGluAlaCysMetLysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000280904.11:c.1660C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024422.6:c.1660C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000280904.6:p.Gln554Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077740.1:p.Gln554Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}