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  "communityStandardTitle": [
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        "RCV": [
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      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Trp271Ter",
        "hgvsWellDefined": "XP_011538406.1:p.Trp271_Ile532delinsPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.2:c.812G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Trp271Ter",
        "hgvsWellDefined": "XP_011538405.1:p.Trp271_Ile532delinsPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.2:c.812G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Trp271Ter",
        "hgvsWellDefined": "XP_011538406.1:p.Trp271_Ile532delinsPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA254360",
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.3:c.812G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Trp271Ter",
        "hgvsWellDefined": "NP_004320.2:p.Trp271_Ile532delinsPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696108",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.812G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.812G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Trp271Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Trp271Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}