{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261761",
  "communityStandardTitle": [
    "NM_014000.3(VCL):c.562C>T (p.Arg188Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4015856",
        "active": true,
        "id": "COSM4015856"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54781[alleleid]",
        "alleleId": 54781,
        "preferredName": "NM_014000.3(VCL):c.562C>T (p.Arg188Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45615",
        "RCV": [
          "RCV000038833",
          "RCV000183988",
          "RCV000645310",
          "RCV002345301"
        ],
        "variationId": 45615
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.75832550C>T?assembly=hg19",
        "id": "chr10:g.75832550C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.74072792C>T?assembly=hg38",
        "id": "chr10:g.74072792C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517244",
        "rs": 397517244
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-75832550-C-T?dataset=gnomad_r2_1",
        "id": "10-75832550-C-T",
        "variant": "10:75832550 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-74072792-C-T?dataset=gnomad_r3",
        "id": "10-74072792-C-T",
        "variant": "10:74072792 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-74072792-C-T?dataset=gnomad_r4",
        "id": "10-74072792-C-T",
        "variant": "10:74072792 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 74072792,
          "referenceAllele": "C",
          "start": 74072791
        }
      ],
      "hgvs": [
        "NC_000010.11:g.74072792C>T",
        "CM000672.2:g.74072792C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75832550,
          "referenceAllele": "C",
          "start": 75832549
        }
      ],
      "hgvs": [
        "NC_000010.10:g.75832550C>T",
        "CM000672.1:g.75832550C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75502556,
          "referenceAllele": "C",
          "start": 75502555
        }
      ],
      "hgvs": [
        "NC_000010.9:g.75502556C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79679,
          "referenceAllele": "C",
          "start": 79678
        }
      ],
      "hgvs": [
        "NG_008868.1:g.79679C>T",
        "LRG_383:g.79679C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001263"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000211998.10:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000211998.5:p.Arg188Ter",
        "hgvsWellDefined": "ENSP00000211998.5:p.Arg188_Gln1134delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000211998.10:c.562C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014000.3:c.562C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000211998.5:p.Arg188Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054706.1:p.Arg188Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000211998.8:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000211998.4:p.Arg188Ter",
        "hgvsWellDefined": "ENSP00000211998.4:p.Arg188_Gln1134delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000372755.7:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361841.3:p.Arg188Ter",
        "hgvsWellDefined": "ENSP00000361841.3:p.Arg188_Gln1066delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 28261,
          "referenceAllele": "C",
          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 28262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000478896.2:n.332-28262C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000623461.3:n.520C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "ENST00000624354.3:c.*317C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485551.1:n.*317C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829448989",
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_003373.3:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003364.1:p.Arg188Ter",
        "hgvsWellDefined": "NP_003364.1:p.Arg188_Gln1066delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA261763",
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_014000.2:c.562C>T",
        "LRG_383t1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054706.1:p.Arg188Ter",
        "hgvsWellDefined": "NP_054706.1:p.Arg188_Gln1134delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "XM_005270142.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270199.1:p.Arg188Ter",
        "hgvsWellDefined": "XP_005270199.1:p.Arg188_Gln1135delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "XM_005270143.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270200.1:p.Arg188Ter",
        "hgvsWellDefined": "XP_005270200.1:p.Arg188_Gln1067delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829448989",
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_003373.4:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003364.1:p.Arg188Ter",
        "hgvsWellDefined": "NP_003364.1:p.Arg188_Gln1066delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA261763",
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_014000.3:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054706.1:p.Arg188Ter",
        "hgvsWellDefined": "NP_054706.1:p.Arg188_Gln1134delinsValMetLeuValAsnSerMetAsnThrValLysGluLeuLeuProValLeuIleSerAlaMetLysIlePheValThrThrLysAsnSerLysAsnGlnGlyIleGluGluAlaLeuLysAsnArgAsnPheThrValGluLysMetSerAlaGluIleAsnGluIleIleArgValLeuGlnLeuThrSerTrpAspGluAspAlaTrpAlaSerLysAspThrGluAlaMetLysArgAlaLeuAlaSerIleAspSerLysLeuAsnGlnAlaLysGlyTrpLeuArgAspProSerAlaSerProGlyAspAlaGlyGluGlnAlaIleArgGlnIleLeuAspGluAlaGlyLysValGlyGluLeuCysAlaGlyLysGluArgArgGluIleLeuGlyThrCysLysMetLeuGlyGlnMetThrAspGlnValAlaAspLeuArgAlaArgGlyGlnGlySerSerProValAlaMetGlnLysAlaGlnGlnValSerGlnGlyLeuAspValLeuThrAlaLysValGluAsnAlaAlaArgLysLeuGluAlaMetThrAsnSerLysGlnSerIleAlaLysLysIleAspAlaAlaGlnAsnTrpLeuAlaAspProAsnGlyGlyProGluGlyGluGluGlnIleArgGlyAlaLeuAlaGluAlaArgLysIleAlaGluLeuCysAspAspProLysGluArgAspAspIleLeuArgSerLeuGlyGluIleSerAlaLeuThrSerLysLeuAlaAspLeuArgArgGlnGlyLysGlyAspSerProGluAlaArgAlaLeuAlaLysGlnValAlaThrAlaLeuGlnAsnLeuGlnThrLysThrAsnArgAlaValAlaAsnSerArgProAlaLysAlaAlaValHisLeuGluGlyLysIleGluGlnAlaGlnArgTrpIleAspAsnProThrValAspAspArgGlyValGlyGlnAlaAlaIleArgGlyLeuValAlaGluGlyHisArgLeuAlaAsnValMetMetGlyProTyrArgGlnAspLeuLeuAlaLysCysAspArgValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000211998.10:c.562C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014000.3:c.562C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000211998.5:p.Arg188Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054706.1:p.Arg188Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}