{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371914654",
  "communityStandardTitle": [
    "NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=934080[alleleid]",
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        "preferredName": "NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)"
      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/935448",
        "RCV": [
          "RCV001204040"
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        "variationId": 935448
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.119122325T>A?assembly=hg19",
        "id": "chr8:g.119122325T>A"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr8:g.118110086T>A?assembly=hg38",
        "id": "chr8:g.118110086T>A"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1817866954",
        "rs": 1817866954
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    ]
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
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      "chromosome": "8",
      "coordinates": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
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      "hgvs": [
        "NG_007455.2:g.6734A>T",
        "LRG_493:g.6734A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneNCBI_id": 2131,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752050",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_000127.3:c.961A>T"
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        "protein": {
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          "RefSeq": {
            "hgvs": "NP_000118.2:p.Lys321Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "start": 328
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      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS755603"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000367446.2:p.Lys321_Leu746delinsTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "referenceAllele": "A",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000436216.1:c.329A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS293863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 888,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000437196.1:c.73+888A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407299.1:n.73+888A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668916",
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.2:c.961A>T",
        "LRG_493t1:c.961A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Lys321Ter",
        "hgvsWellDefined": "NP_000118.2:p.Lys321_Leu746delinsTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139668916",
      "coordinates": [
        {
          "allele": "T",
          "end": 1741,
          "referenceAllele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.3:c.961A>T"
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      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Lys321Ter",
        "hgvsWellDefined": "NP_000118.2:p.Lys321_Leu746delinsTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674714",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.961A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.961A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Lys321Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Lys321Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}