{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126674",
  "communityStandardTitle": [
    "NM_001928.4(CFD):c.125C>A (p.Ser42Ter)"
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  "externalRecords": {
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      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16564",
        "RCV": [
          "RCV000018032",
          "RCV001729351"
        ],
        "variationId": 16564
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.860686C>A?assembly=hg19",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894667",
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      }
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      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-860686-C-A?dataset=gnomad_r4",
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    },
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    },
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    {
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    }
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    },
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        }
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        "hgvsWellDefined": "NP_001304264.1:p.Ser49_Ala260delinsValGlnLeuAsnGlyAlaHisLeuCysGlyGlyValLeuValAlaGluGlnTrpValLeuSerAlaAlaHisCysLeuGluAspAlaAlaAspGlyLysValGlnValLeuLeuGlyAlaHisSerLeuSerGlnProGluProSerLysArgLeuTyrAspValLeuArgAlaValProHisProAspSerGlnProAspThrIleAspHisAspLeuLeuLeuLeuGlnLeuSerGluLysAlaThrLeuGlyProAlaValArgProLeuProTrpGlnArgValAspArgAspValAlaProGlyThrLeuCysAspValAlaGlyTrpGlyIleValAsnHisAlaGlyArgArgProAspSerLeuGlnHisValLeuLeuProValLeuAspArgAlaThrCysAsnArgArgThrHisHisAspGlyAlaIleThrGluArgLeuMetCysAlaGluSerAsnArgArgAspSerCysLysGlyAspSerGlyGlyProLeuValCysGlyGlyValLeuGluGlyValValThrSerGlySerArgValCysGlyAsnArgLysLysProGlyIleTyrThrArgValAlaSerTyrAlaAlaTrpIleAspSerValLeuAlaTer"
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      "proteinEffect": {
        "hgvs": "NP_001919.2:p.Ser42Ter",
        "hgvsWellDefined": "NP_001919.2:p.Ser42_Ala253delinsValGlnLeuAsnGlyAlaHisLeuCysGlyGlyValLeuValAlaGluGlnTrpValLeuSerAlaAlaHisCysLeuGluAspAlaAlaAspGlyLysValGlnValLeuLeuGlyAlaHisSerLeuSerGlnProGluProSerLysArgLeuTyrAspValLeuArgAlaValProHisProAspSerGlnProAspThrIleAspHisAspLeuLeuLeuLeuGlnLeuSerGluLysAlaThrLeuGlyProAlaValArgProLeuProTrpGlnArgValAspArgAspValAlaProGlyThrLeuCysAspValAlaGlyTrpGlyIleValAsnHisAlaGlyArgArgProAspSerLeuGlnHisValLeuLeuProValLeuAspArgAlaThrCysAsnArgArgThrHisHisAspGlyAlaIleThrGluArgLeuMetCysAlaGluSerAsnArgArgAspSerCysLysGlyAspSerGlyGlyProLeuValCysGlyGlyValLeuGluGlyValValThrSerGlySerArgValCysGlyAsnArgLysLysProGlyIleTyrThrArgValAlaSerTyrAlaAlaTrpIleAspSerValLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327726.11:c.125C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001928.4:c.125C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332139.4:p.Ser42Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001919.2:p.Ser42Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}