{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410779326",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.357C>A (p.Tyr119Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2903250[alleleid]",
        "alleleId": 2903250,
        "preferredName": "NM_006767.4(LZTR1):c.357C>A (p.Tyr119Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2742481",
        "RCV": [
          "RCV003557971"
        ],
        "variationId": 2742481
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21341829C>A?assembly=hg19",
        "id": "chr22:g.21341829C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20987540C>A?assembly=hg38",
        "id": "chr22:g.20987540C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1482222775",
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      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20987540-C-A?dataset=gnomad_r4",
        "id": "22-20987540-C-A",
        "variant": "22:20987540 C / A"
      }
    ]
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    {
      "chromosome": "22",
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NC_000022.11:g.20987540C>A",
        "CM000684.2:g.20987540C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
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        }
      ],
      "hgvs": [
        "NC_000022.9:g.19671829C>A"
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NG_034193.1:g.10272C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
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        {
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      "geneNCBI_id": 8216,
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      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
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          "endIntronDirection": "-",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS767814"
    },
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      ],
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        "hgvsWellDefined": "ENSP00000493479.1:p.Tyr100_Glu149del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768614"
    },
    {
      "coordinates": [
        {
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        }
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      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000646124.2:c.357C>A"
          },
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            "hgvs": "NM_006767.4:c.357C>A"
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        },
        "protein": {
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            "hgvs": "ENSP00000496779.1:p.Tyr119Ter"
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          "RefSeq": {
            "hgvs": "NP_006758.2:p.Tyr119Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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          "start": 715
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "endIntronDirection": "-",
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      "proteinEffect": {
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS297259"
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
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    {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS320933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580350299",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580350299",
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
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      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Tyr119Ter",
        "hgvsWellDefined": "NP_006758.2:p.Tyr119_Ile840delinsHisHisSerAlaValValTyrGlySerSerMetPheValPheGlyGlyTyrThrGlyAspIleTyrSerAsnSerAsnLeuLysAsnLysAsnAspLeuPheGluTyrLysPheAlaThrGlyGlnTrpThrGluTrpLysIleGluGlyArgLeuProValAlaArgSerAlaHisGlyAlaThrValTyrSerAspLysLeuTrpIlePheAlaGlyTyrAspGlyAsnAlaArgLeuAsnAspMetTrpThrIleGlyLeuGlnAspArgGluLeuThrCysTrpGluGluValAlaGlnSerGlyGluIleProProSerCysCysAsnPheProValAlaValCysArgAspLysMetPheValPheSerGlyGlnSerGlyAlaLysIleThrAsnAsnLeuPheGlnPheGluPheLysAspLysThrTrpThrArgIleProThrGluHisLeuLeuArgGlySerProProProProGlnArgArgTyrGlyHisThrMetValAlaPheAspArgHisLeuTyrValPheGlyGlyAlaAlaAspAsnThrLeuProAsnGluLeuHisCysTyrAspValAspPheGlnThrTrpGluValValGlnProSerSerAspSerGluValGlyGlyAlaGluValProGluArgAlaCysAlaSerGluGluValProThrLeuThrTyrGluGluArgValGlyPheLysLysSerArgAspValPheGlyLeuAspPheGlyThrThrSerAlaLysGlnProThrGlnProAlaSerGluLeuProSerGlyArgLeuPheHisAlaAlaAlaValIleSerAspAlaMetTyrIlePheGlyGlyThrValAspAsnAsnIleArgSerGlyGluMetTyrArgPheGlnPheSerCysTyrProLysCysThrLeuHisGluAspTyrGlyArgLeuTrpGluSerArgGlnPheCysAspValGluPheValLeuGlyGluLysGluGluCysValGlnGlyHisValAlaIleValThrAlaArgSerArgTrpLeuArgArgLysIleThrGlnAlaArgGluArgLeuAlaGlnLysLeuGluGlnGluAlaAlaProValProArgGluAlaProGlyValAlaAlaGlyGlyAlaArgProProLeuLeuHisValAlaIleArgGluAlaGluAlaArgProPheGluValLeuMetGlnPheLeuTyrThrAspLysIleLysTyrProArgLysGlyHisValGluAspValLeuLeuIleMetAspValTyrLysLeuAlaLeuSerPheGlnLeuCysArgLeuGluGlnLeuCysArgGlnTyrIleGluAlaSerValAspLeuGlnAsnValLeuValValCysGluSerAlaAlaArgLeuGlnLeuSerGlnLeuLysGluHisCysLeuAsnPheValValLysGluSerHisPheAsnGlnValIleMetMetLysGluPheGluArgLeuSerSerProLeuIleValGluIleValArgArgLysGlnGlnProProProArgThrProLeuAspGlnProValAspIleGlyThrSerLeuIleGlnAspMetLysAlaTyrLeuGluGlyAlaGlyAlaGluPheCysAspIleThrLeuLeuLeuAspGlyHisProArgProAlaHisLysAlaIleLeuAlaAlaArgSerSerTyrPheGluAlaMetPheArgSerPheMetProGluAspGlyGlnValAsnIleSerIleGlyGluMetValProSerArgGlnAlaPheGluSerMetLeuArgTyrIleTyrTyrGlyGluValAsnMetProProGluAspSerLeuTyrLeuPheAlaAlaProTyrTyrTyrGlyPheTyrAsnAsnArgLeuGlnAlaTyrCysLysGlnAsnLeuGluMetAsnValThrValGlnAsnValLeuGlnIleLeuGluAlaAlaAspLysThrGlnAlaLeuAspMetLysArgHisCysLeuHisIleIleValHisGlnPheThrLysValSerLysLeuProThrLeuArgSerLeuSerGlnGlnLeuLeuLeuAspIleIleAspSerLeuAlaSerHisIleSerAspLysGlnCysAlaGluLeuGlyAlaAspIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.357C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.357C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Tyr119Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Tyr119Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}