{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10118284",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1481310[alleleid]",
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        "preferredName": "NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459953",
        "RCV": [
          "RCV001951347",
          "RCV002352656",
          "RCV002290824"
        ],
        "variationId": 1459953
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-21336775-G-T",
        "id": "22-21336775-G-T",
        "variant": "22:21336775 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21336775G>T?assembly=hg19",
        "id": "chr22:g.21336775G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20982486G>T?assembly=hg38",
        "id": "chr22:g.20982486G>T"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762434811",
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        "id": "22-21336775-G-T",
        "variant": "22:21336775 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20982486-G-T?dataset=gnomad_r4",
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "22",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "22",
      "coordinates": [
        {
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        }
      ],
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
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    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS757736"
    },
    {
      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS767814"
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      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_006767.4:c.115G>T"
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        "protein": {
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        }
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    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
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          "start": 473
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "endIntronDirection": "-",
          "endIntronOffset": 540,
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      "referenceSequence": "http://reg.genome.network/refseq/RS330604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253483",
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      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Glu39Ter",
        "hgvsWellDefined": "NP_006758.2:p.Glu39_Ile840delinsTyrLeuThrLeuAsnPheGlyProPheGluThrValHisArgTrpArgArgLeuProProCysAspGluPheValGlyAlaArgArgSerLysHisThrValValAlaTyrLysAspAlaIleTyrValPheGlyGlyAspAsnGlyLysThrMetLeuAsnAspLeuLeuArgPheAspValLysAspCysSerTrpCysArgAlaPheThrThrGlyThrProProAlaProArgTyrHisHisSerAlaValValTyrGlySerSerMetPheValPheGlyGlyTyrThrGlyAspIleTyrSerAsnSerAsnLeuLysAsnLysAsnAspLeuPheGluTyrLysPheAlaThrGlyGlnTrpThrGluTrpLysIleGluGlyArgLeuProValAlaArgSerAlaHisGlyAlaThrValTyrSerAspLysLeuTrpIlePheAlaGlyTyrAspGlyAsnAlaArgLeuAsnAspMetTrpThrIleGlyLeuGlnAspArgGluLeuThrCysTrpGluGluValAlaGlnSerGlyGluIleProProSerCysCysAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253483",
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.115G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Glu39Ter",
        "hgvsWellDefined": "NP_006758.2:p.Glu39_Ile840delinsTyrLeuThrLeuAsnPheGlyProPheGluThrValHisArgTrpArgArgLeuProProCysAspGluPheValGlyAlaArgArgSerLysHisThrValValAlaTyrLysAspAlaIleTyrValPheGlyGlyAspAsnGlyLysThrMetLeuAsnAspLeuLeuArgPheAspValLysAspCysSerTrpCysArgAlaPheThrThrGlyThrProProAlaProArgTyrHisHisSerAlaValValTyrGlySerSerMetPheValPheGlyGlyTyrThrGlyAspIleTyrSerAsnSerAsnLeuLysAsnLysAsnAspLeuPheGluTyrLysPheAlaThrGlyGlnTrpThrGluTrpLysIleGluGlyArgLeuProValAlaArgSerAlaHisGlyAlaThrValTyrSerAspLysLeuTrpIlePheAlaGlyTyrAspGlyAsnAlaArgLeuAsnAspMetTrpThrIleGlyLeuGlnAspArgGluLeuThrCysTrpGluGluValAlaGlnSerGlyGluIleProProSerCysCysAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.115G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.115G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Glu39Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Glu39Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}