{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357398467",
  "communityStandardTitle": [
    "NM_025074.7(FRAS1):c.11110C>T (p.Arg3704Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2960145[alleleid]",
        "alleleId": 2960145,
        "preferredName": "NM_025074.7(FRAS1):c.11110C>T (p.Arg3704Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2790381",
        "RCV": [
          "RCV003669839"
        ],
        "variationId": 2790381
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.79458166C>T?assembly=hg19",
        "id": "chr4:g.79458166C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.78537012C>T?assembly=hg38",
        "id": "chr4:g.78537012C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1274650161",
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    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-79458166-C-T?dataset=gnomad_r2_1",
        "id": "4-79458166-C-T",
        "variant": "4:79458166 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78537012-C-T?dataset=gnomad_r3",
        "id": "4-78537012-C-T",
        "variant": "4:78537012 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-78537012-C-T?dataset=gnomad_r4",
        "id": "4-78537012-C-T",
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    ]
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      "chromosome": "4",
      "coordinates": [
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
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        {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
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      "referenceGenome": "NCBI36",
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    },
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS673642"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342228"
    },
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      "@id": "http://reg.genome.network/allele/PA2741981891",
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      "referenceSequence": "http://reg.genome.network/refseq/RS038185"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS070595"
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    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS070596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099298"
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    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS099299"
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    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538695"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741981891",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN019185",
      "geneNCBI_id": 80144,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_079350.5:p.Arg3704_Val4012delinsValLeuTrpAsnProGluGlnAsnLeuAsnSerAlaTyrLysLeuGlnLeuGluLysValTyrLeuCysThrGlyLysAspGlyTyrValProPhePheAspProThrGlyThrIleTyrAsnGluGlyProGlnTyrGlyCysIleGlnProAsnLysHisLeuLysHisArgPheLeuLeuLeuAspArgAsnGlnProGluValThrAspLysTyrPheHisAspValProPheGluAlaHisPheAlaSerGluLeuProAspPheHisValValSerAsnMetProGlyValAspGlyPheThrLeuLysValAspAlaLeuTyrLysValGluAlaGlyHisGlnTrpTyrLeuGlnValIleTyrIleIleGlyProAspThrIleSerGlyProArgValGlnArgSerLeuThrAlaProLeuArgArgAsnArgArgAspLeuValGluProAspGlyGlnLeuIleLeuAspAspSerLeuIleTyrAspAsnGluGlyAspGlnValLysAsnGlyThrAsnMetLysSerLeuAsnLeuGluMetGlnGluLeuAlaValAlaAlaSerLeuSerGlnThrGlyAlaSerIleGlySerAlaLeuAlaAlaIleMetLeuLeuLeuLeuValPheLeuValAlaCysPheIleAsnArgLysCysGlnLysGlnArgLysLysLysProAlaGluAspIleLeuGluGluTyrProLeuAsnThrLysValGluValProLysArgHisProAspArgValGluLysAsnValAsnArgHisTyrCysThrValArgAsnValAsnIleLeuSerGluProGluAlaAlaTyrThrPheLysGlyAlaLysValLysArgLeuAsnLeuGluValArgValHisAsnAsnLeuGlnAspGlyThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670885",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000512123.4:c.11110C>T"
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          "RefSeq": {
            "hgvs": "NM_025074.7:c.11110C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000422834.2:p.Arg3704Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079350.5:p.Arg3704Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}