{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350683513",
  "communityStandardTitle": [
    "NM_001927.4(DES):c.163C>T (p.Gln55Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3097033[alleleid]",
        "alleleId": 3097033,
        "preferredName": "NM_001927.4(DES):c.163C>T (p.Gln55Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2941160",
        "RCV": [
          "RCV003792422"
        ],
        "variationId": 2941160
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.220283347C>T?assembly=hg19",
        "id": "chr2:g.220283347C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219418625C>T?assembly=hg38",
        "id": "chr2:g.219418625C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1954365477",
        "rs": 1954365477
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219418625-C-T?dataset=gnomad_r4",
        "id": "2-219418625-C-T",
        "variant": "2:219418625 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219418625,
          "referenceAllele": "C",
          "start": 219418624
        }
      ],
      "hgvs": [
        "NC_000002.12:g.219418625C>T",
        "CM000664.2:g.219418625C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 220283347,
          "referenceAllele": "C",
          "start": 220283346
        }
      ],
      "hgvs": [
        "NC_000002.11:g.220283347C>T",
        "CM000664.1:g.220283347C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219991591,
          "referenceAllele": "C",
          "start": 219991590
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219991591C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5249,
          "referenceAllele": "C",
          "start": 5248
        }
      ],
      "hgvs": [
        "NG_008043.1:g.5249C>T",
        "LRG_380:g.5249C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000799"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.4:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000363071.3:p.Gln55_Leu470delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751346",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Gln55Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Gln55Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "ENST00000373960.3:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363071.3:p.Gln55Ter",
        "hgvsWellDefined": "ENSP00000363071.3:p.Gln55_Leu470delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741890958",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.3:c.163C>T",
        "LRG_380t1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Gln55Ter",
        "hgvsWellDefined": "NP_001918.3:p.Gln55_Leu470delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027255"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741890958",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001927.4:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001918.3:p.Gln55Ter",
        "hgvsWellDefined": "NP_001918.3:p.Gln55_Leu470delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695404",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373960.4:c.163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001927.4:c.163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363071.3:p.Gln55Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001918.3:p.Gln55Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828914870",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382708.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369637.1:p.Gln55Ter",
        "hgvsWellDefined": "NP_001369637.1:p.Gln55_Leu469delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828915346",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382709.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369638.1:p.Gln55Ter",
        "hgvsWellDefined": "NP_001369638.1:p.Gln55_Leu326delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828915702",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382710.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369639.1:p.Gln55Ter",
        "hgvsWellDefined": "NP_001369639.1:p.Gln55_Leu447delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916161",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382711.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369640.1:p.Gln55Ter",
        "hgvsWellDefined": "NP_001369640.1:p.Gln55_Leu463delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828916632",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382712.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369641.1:p.Gln55Ter",
        "hgvsWellDefined": "NP_001369641.1:p.Gln55_Asp465delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnValGluValLeuThrAsnGlnArgAlaArgValAspValGluArgAspAsnLeuLeuAspAspLeuGlnArgLeuLysAlaLysLeuGlnGluGluIleGlnLeuLysGluGluAlaGluAsnAsnLeuAlaAlaPheArgAlaAspValAspAlaAlaThrLeuAlaArgIleAspLeuGluArgArgIleGluSerLeuAsnGluGluIleAlaPheLeuLysLysValHisGluGluGluIleArgGluLeuGlnAlaGlnLeuGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValLeuGluValGlyAlaGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828917100",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002770",
      "geneNCBI_id": 1674,
      "geneSymbol": "DES",
      "hgvs": [
        "NM_001382713.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369642.1:p.Gln55Ter",
        "hgvsWellDefined": "NP_001369642.1:p.Gln55_Leu380delinsValSerArgThrSerGlyGlyAlaGlyGlyLeuGlySerLeuArgAlaSerArgLeuGlyThrThrArgThrProSerSerTyrGlyAlaGlyGluLeuLeuAspPheSerLeuAlaAspAlaValAsnGlnGluPheLeuThrThrArgThrAsnGluLysValGluLeuGlnGluLeuAsnAspArgPheAlaAsnTyrIleGluLysValArgPheLeuGluGlnGlnAsnAlaAlaLeuAlaAlaGluValAsnArgLeuLysGlyArgGluProThrArgValAlaGluLeuTyrGluGluGluLeuArgGluLeuArgArgGlnGluGlnGlnValGlnValGluMetAspMetSerLysProAspLeuThrAlaAlaLeuArgAspIleArgAlaGlnTyrGluThrIleAlaAlaLysAsnIleSerGluAlaGluGluTrpTyrLysSerLysValSerAspLeuThrGlnAlaAlaAsnLysAsnAsnAspAlaLeuArgGlnAlaLysGlnGluMetMetGluTyrArgHisGlnIleGlnSerTyrThrCysGluIleAspAlaLeuLysGlyThrAsnAspSerLeuMetArgGlnMetArgGluLeuGluAspArgPheAlaSerGluAlaSerGlyTyrGlnAspAsnIleAlaArgLeuGluGluGluIleArgHisLeuLysAspGluMetAlaArgHisLeuArgGluTyrGlnAspLeuLeuAsnValLysMetAlaLeuAspValGluIleAlaThrTyrArgLysLeuLeuGluGlyGluGluSerArgIleAsnLeuProIleGlnThrTyrSerAlaLeuAsnPheArgGluThrSerProGluGlnArgGlySerGluValHisThrLysLysThrValMetIleLysThrIleGluThrArgAspGlyGluValValSerGluAlaThrGlnGlnGlnHisGluValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722556"
    }
  ],
  "type": "nucleotide"
}