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  "communityStandardTitle": [
    "NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)"
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        "active": false,
        "id": "COSM1645447"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142351",
        "RCV": [
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          "RCV000482559",
          "RCV002228323"
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      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Arg273Ter",
        "hgvsWellDefined": "XP_011538406.1:p.Arg273_Ile532delinsGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.2:c.817C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Arg273Ter",
        "hgvsWellDefined": "XP_011538405.1:p.Arg273_Ile532delinsGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1429,
          "referenceAllele": "C",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.2:c.817C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Arg273Ter",
        "hgvsWellDefined": "XP_011538406.1:p.Arg273_Ile532delinsGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA168146",
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.3:c.817C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Arg273Ter",
        "hgvsWellDefined": "NP_004320.2:p.Arg273_Ile532delinsGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696108",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.817C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.817C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Arg273Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Arg273Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}