{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261755",
  "communityStandardTitle": [
    "NM_014000.3(VCL):c.1639C>T (p.Arg547Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54752[alleleid]",
        "alleleId": 54752,
        "preferredName": "NM_014000.3(VCL):c.1639C>T (p.Arg547Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45586",
        "RCV": [
          "RCV003362676",
          "RCV004017321"
        ],
        "variationId": 45586
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-75855509-C-T",
        "id": "10-75855509-C-T",
        "variant": "10:75855509 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.75855509C>T?assembly=hg19",
        "id": "chr10:g.75855509C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.74095751C>T?assembly=hg38",
        "id": "chr10:g.74095751C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517234",
        "rs": 397517234
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-75855509-C-T?dataset=gnomad_r2_1",
        "id": "10-75855509-C-T",
        "variant": "10:75855509 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-74095751-C-T?dataset=gnomad_r4",
        "id": "10-74095751-C-T",
        "variant": "10:74095751 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 74095751,
          "referenceAllele": "C",
          "start": 74095750
        }
      ],
      "hgvs": [
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        "CM000672.2:g.74095751C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75855509,
          "referenceAllele": "C",
          "start": 75855508
        }
      ],
      "hgvs": [
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        "CM000672.1:g.75855509C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 75525515,
          "referenceAllele": "C",
          "start": 75525514
        }
      ],
      "hgvs": [
        "NC_000010.9:g.75525515C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102638,
          "referenceAllele": "C",
          "start": 102637
        }
      ],
      "hgvs": [
        "NG_008868.1:g.102638C>T",
        "LRG_383:g.102638C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001263"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1731,
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          "start": 1730
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      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000211998.10:c.1639C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014000.3:c.1639C>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000211998.5:p.Arg547Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054706.1:p.Arg547Ter"
          }
        }
      }
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    {
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          "referenceAllele": "C",
          "start": 1732
        }
      ],
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      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000211998.4:p.Arg547_Gln1134delinsValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000415489.1:p.Arg219_Gln806delinsValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "endIntronDirection": "-",
          "endIntronOffset": 5302,
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          "start": 331,
          "startIntronDirection": "-",
          "startIntronOffset": 5303
        }
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS319396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4442,
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          "start": 4441
        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS406083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000485551.1:n.*1394C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS406307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829449654",
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_003364.1:p.Arg547_Gln1066delinsValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA261757",
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        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
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      "hgvs": [
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        "LRG_383t1:c.1639C>T"
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      "proteinEffect": {
        "hgvs": "NP_054706.1:p.Arg547Ter",
        "hgvsWellDefined": "NP_054706.1:p.Arg547_Gln1134delinsValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "XM_005270142.1:c.1642C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270199.1:p.Arg548Ter",
        "hgvsWellDefined": "XP_005270199.1:p.Arg548_Gln1135delinsValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "XM_005270143.1:c.1642C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270200.1:p.Arg548Ter",
        "hgvsWellDefined": "XP_005270200.1:p.Arg548_Gln1067delinsValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829449654",
      "coordinates": [
        {
          "allele": "T",
          "end": 1731,
          "referenceAllele": "C",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_003373.4:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003364.1:p.Arg547Ter",
        "hgvsWellDefined": "NP_003364.1:p.Arg547_Gln1066delinsValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA261757",
      "coordinates": [
        {
          "allele": "T",
          "end": 1731,
          "referenceAllele": "C",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012665",
      "geneNCBI_id": 7414,
      "geneSymbol": "VCL",
      "hgvs": [
        "NM_014000.3:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054706.1:p.Arg547Ter",
        "hgvsWellDefined": "NP_054706.1:p.Arg547_Gln1134delinsValAspGlnLeuThrAlaGlnLeuAlaAspLeuAlaAlaArgGlyGluGlyGluSerProGlnAlaArgAlaLeuAlaSerGlnLeuGlnAspSerLeuLysAspLeuLysAlaArgMetGlnGluAlaMetThrGlnGluValSerAspValPheSerAspThrThrThrProIleLysLeuLeuAlaValAlaAlaThrAlaProProAspAlaProAsnArgGluGluValPheAspGluArgAlaAlaAsnPheGluAsnHisSerGlyLysLeuGlyAlaThrAlaGluLysAlaAlaAlaValGlyThrAlaAsnLysSerThrValGluGlyIleGlnAlaSerValLysThrAlaArgGluLeuThrProGlnValValSerAlaAlaArgIleLeuLeuArgAsnProGlyAsnGlnAlaAlaTyrGluHisPheGluThrMetLysAsnGlnTrpIleAspAsnValGluLysMetThrGlyLeuValAspGluAlaIleAspThrLysSerLeuLeuAspAlaSerGluGluAlaIleLysLysAspLeuAspLysCysLysValAlaMetAlaAsnIleGlnProGlnMetLeuValAlaGlyAlaThrSerIleAlaArgArgAlaAsnArgIleLeuLeuValAlaLysArgGluValGluAsnSerGluAspProLysPheArgGluAlaValLysAlaAlaSerAspGluLeuSerLysThrIleSerProMetValMetAspAlaLysAlaValAlaGlyAsnIleSerAspProGlyLeuGlnLysSerPheLeuAspSerGlyTyrArgIleLeuGlyAlaValAlaLysValArgGluAlaPheGlnProGlnGluProAspPheProProProProProAspLeuGluGlnLeuArgLeuThrAspGluLeuAlaProProLysProProLeuProGluGlyGluValProProProArgProProProProGluGluLysAspGluGluPheProGluGlnLysAlaGlyGluValIleAsnGlnProMetMetMetAlaAlaArgGlnLeuHisAspGluAlaArgLysTrpSerSerLysProGlyIleProAlaAlaGluValGlyIleGlyValValAlaGluAlaAspAlaAlaAspAlaAlaGlyPheProValProProAspMetGluAspAspTyrGluProGluLeuLeuLeuMetProSerAsnGlnProValAsnGlnProIleLeuAlaAlaAlaGlnSerLeuHisArgGluAlaThrLysTrpSerSerLysGlyAsnAspIleIleAlaAlaAlaLysArgMetAlaLeuLeuMetAlaGluMetSerArgLeuValArgGlyGlySerGlyThrLysArgAlaLeuIleGlnCysAlaLysAspIleAlaLysAlaSerAspGluValThrArgLeuAlaLysGluValAlaLysGlnCysThrAspLysArgIleArgThrAsnLeuLeuGlnValCysGluArgIleProThrIleSerThrGlnLeuLysIleLeuSerThrValLysAlaThrMetLeuGlyArgThrAsnIleSerAspGluGluSerGluGlnAlaThrGluMetLeuValHisAsnAlaGlnAsnLeuMetGlnSerValLysGluThrValArgGluAlaGluAlaAlaSerIleLysIleArgThrAspAlaGlyPheThrLeuArgTrpValArgLysThrProTrpTyrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000211998.10:c.1639C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014000.3:c.1639C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000211998.5:p.Arg547Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054706.1:p.Arg547Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}