{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114290",
  "communityStandardTitle": [
    "NM_005581.5(BCAM):c.711C>A (p.Cys237Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15481[alleleid]",
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        "preferredName": "NM_005581.5(BCAM):c.711C>A (p.Cys237Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/442",
        "RCV": [
          "RCV000000471"
        ],
        "variationId": 442
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.45316804C>A?assembly=hg19",
        "id": "chr19:g.45316804C>A"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.44813547C>A?assembly=hg38",
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      }
    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/3810141",
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        "@id": "http://gnomad.broadinstitute.org/variant/19-44813547-C-A?dataset=gnomad_r4",
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        "CM000681.2:g.44813547C>A"
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      "referenceGenome": "GRCh38",
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    {
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    {
      "chromosome": "19",
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    },
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    }
  ],
  "transcriptAlleles": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743151",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761813"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252232"
    },
    {
      "coordinates": [
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        "hgvsWellDefined": "ENSP00000476710.1:p.Cys237_Pro588delinsAlaAlaHisTyrSerLeuProGluGlyArgHisGlyArgLeuAspSerProThrPheHisLeuThrLeuHisTyrProThrGluHisValGlnPheTrpValGlySerProSerThrProAlaGlyTrpValArgGluGlyAspThrValGlnLeuLeuCysArgGlyAspGlySerProSerProGluTyrThrLeuPheArgLeuGlnAspGluGlnGluGluValLeuAsnValAsnLeuGluGlyAsnLeuThrLeuGluGlyValThrArgGlyGlnSerGlyThrTyrGlyCysArgValGluAspTyrAspAlaAlaAspAspValGlnLeuSerLysThrLeuGluLeuArgValAlaTyrLeuAspProLeuGluLeuSerGluGlyLysValLeuSerLeuProLeuAsnSerSerAlaValValAsnCysSerValHisGlyLeuProThrProAlaLeuArgTrpThrLysAspSerThrProLeuGlyAspGlyProMetLeuSerLeuSerSerIleThrPheAspSerAsnGlyThrTyrValCysGluAlaSerLeuProThrValProValLeuSerArgThrGlnAsnPheThrLeuLeuValGlnGlySerProGluLeuLysThrAlaGluIleGluProLysAlaAspGlySerTrpArgGluGlyAspGluValThrLeuIleCysSerAlaArgGlyHisProAspProLysLeuSerTrpSerGlnLeuGlyGlySerProAlaGluProIleProGlyArgGlnGlyTrpValSerSerSerLeuThrLeuLysValThrSerAlaLeuSerArgAspGlyIleSerCysGluAlaSerAsnProHisGlyAsnLysArgHisValPheHisPheGlyThrValSerProGlnThrSerGlnAlaGlyValAlaValMetAlaValAlaValSerValGlyLeuLeuLeuLeuValValAlaValPheTyrCysValArgArgLysGlyGlyProCysCysArgGlnArgArgGluLysGlyAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391641"
    },
    {
      "coordinates": [
        {
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          "start": 308
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      "referenceSequence": "http://reg.genome.network/refseq/RS391953"
    },
    {
      "coordinates": [
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          "allele": "A",
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      "referenceSequence": "http://reg.genome.network/refseq/RS392020"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS392929"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825316585",
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        "hgvsWellDefined": "NP_001013275.1:p.Cys237_Pro588delinsAlaAlaHisTyrSerLeuProGluGlyArgHisGlyArgLeuAspSerProThrPheHisLeuThrLeuHisTyrProThrGluHisValGlnPheTrpValGlySerProSerThrProAlaGlyTrpValArgGluGlyAspThrValGlnLeuLeuCysArgGlyAspGlySerProSerProGluTyrThrLeuPheArgLeuGlnAspGluGlnGluGluValLeuAsnValAsnLeuGluGlyAsnLeuThrLeuGluGlyValThrArgGlyGlnSerGlyThrTyrGlyCysArgValGluAspTyrAspAlaAlaAspAspValGlnLeuSerLysThrLeuGluLeuArgValAlaTyrLeuAspProLeuGluLeuSerGluGlyLysValLeuSerLeuProLeuAsnSerSerAlaValValAsnCysSerValHisGlyLeuProThrProAlaLeuArgTrpThrLysAspSerThrProLeuGlyAspGlyProMetLeuSerLeuSerSerIleThrPheAspSerAsnGlyThrTyrValCysGluAlaSerLeuProThrValProValLeuSerArgThrGlnAsnPheThrLeuLeuValGlnGlySerProGluLeuLysThrAlaGluIleGluProLysAlaAspGlySerTrpArgGluGlyAspGluValThrLeuIleCysSerAlaArgGlyHisProAspProLysLeuSerTrpSerGlnLeuGlyGlySerProAlaGluProIleProGlyArgGlnGlyTrpValSerSerSerLeuThrLeuLysValThrSerAlaLeuSerArgAspGlyIleSerCysGluAlaSerAsnProHisGlyAsnLysArgHisValPheHisPheGlyThrValSerProGlnThrSerGlnAlaGlyValAlaValMetAlaValAlaValSerValGlyLeuLeuLeuLeuValValAlaValPheTyrCysValArgArgLysGlyGlyProCysCysArgGlnArgArgGluLysGlyAlaProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114291",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030669"
    },
    {
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      "proteinEffect": {
        "hgvs": "NP_005572.2:p.Cys237Ter",
        "hgvsWellDefined": "NP_005572.2:p.Cys237_Cys628delinsAlaAlaHisTyrSerLeuProGluGlyArgHisGlyArgLeuAspSerProThrPheHisLeuThrLeuHisTyrProThrGluHisValGlnPheTrpValGlySerProSerThrProAlaGlyTrpValArgGluGlyAspThrValGlnLeuLeuCysArgGlyAspGlySerProSerProGluTyrThrLeuPheArgLeuGlnAspGluGlnGluGluValLeuAsnValAsnLeuGluGlyAsnLeuThrLeuGluGlyValThrArgGlyGlnSerGlyThrTyrGlyCysArgValGluAspTyrAspAlaAlaAspAspValGlnLeuSerLysThrLeuGluLeuArgValAlaTyrLeuAspProLeuGluLeuSerGluGlyLysValLeuSerLeuProLeuAsnSerSerAlaValValAsnCysSerValHisGlyLeuProThrProAlaLeuArgTrpThrLysAspSerThrProLeuGlyAspGlyProMetLeuSerLeuSerSerIleThrPheAspSerAsnGlyThrTyrValCysGluAlaSerLeuProThrValProValLeuSerArgThrGlnAsnPheThrLeuLeuValGlnGlySerProGluLeuLysThrAlaGluIleGluProLysAlaAspGlySerTrpArgGluGlyAspGluValThrLeuIleCysSerAlaArgGlyHisProAspProLysLeuSerTrpSerGlnLeuGlyGlySerProAlaGluProIleProGlyArgGlnGlyTrpValSerSerSerLeuThrLeuLysValThrSerAlaLeuSerArgAspGlyIleSerCysGluAlaSerAsnProHisGlyAsnLysArgHisValPheHisPheGlyThrValSerProGlnThrSerGlnAlaGlyValAlaValMetAlaValAlaValSerValGlyLeuLeuLeuLeuValValAlaValPheTyrCysValArgArgLysGlyGlyProCysCysArgGlnArgArgGluLysGlyAlaProProProGlyGluProGlyLeuSerHisSerGlySerGluGlnProGluGlnThrGlyLeuLeuMetGlyGlyAlaSerGlyGlyAlaArgGlyGlySerGlyGlyPheGlyAspGluCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000270233.12:c.711C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005581.5:c.711C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000270233.5:p.Cys237Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005572.2:p.Cys237Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}