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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294476",
  "communityStandardTitle": [
    "NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)"
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  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4389135",
        "active": true,
        "id": "COSM4389135"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4389136",
        "active": true,
        "id": "COSM4389136"
      }
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        "preferredName": "NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142735",
        "RCV": [
          "RCV000132109",
          "RCV000475579",
          "RCV001376601"
        ],
        "variationId": 142735
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.88676897C>T?assembly=hg19",
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      "referenceSequence": "http://reg.genome.network/refseq/RS914389"
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        "maneStatus": "MANE Select",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS268886"
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      "referenceSequence": "http://reg.genome.network/refseq/RS029498"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Arg228Ter",
        "hgvsWellDefined": "XP_011538405.1:p.Arg228_Ile532delinsThrIleAlaLysGlnIleGlnMetValArgGlnValGlyLysGlyArgTyrGlyGluValTrpMetGlyLysTrpArgGlyGluLysValAlaValLysValPhePheThrThrGluGluAlaSerTrpPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Arg228Ter",
        "hgvsWellDefined": "XP_011538406.1:p.Arg228_Ile532delinsThrIleAlaLysGlnIleGlnMetValArgGlnValGlyLysGlyArgTyrGlyGluValTrpMetGlyLysTrpArgGlyGluLysValAlaValLysValPhePheThrThrGluGluAlaSerTrpPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540103.2:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538405.1:p.Arg228Ter",
        "hgvsWellDefined": "XP_011538405.1:p.Arg228_Ile532delinsThrIleAlaLysGlnIleGlnMetValArgGlnValGlyLysGlyArgTyrGlyGluValTrpMetGlyLysTrpArgGlyGluLysValAlaValLysValPhePheThrThrGluGluAlaSerTrpPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "XM_011540104.2:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538406.1:p.Arg228Ter",
        "hgvsWellDefined": "XP_011538406.1:p.Arg228_Ile532delinsThrIleAlaLysGlnIleGlnMetValArgGlnValGlyLysGlyArgTyrGlyGluValTrpMetGlyLysTrpArgGlyGluLysValAlaValLysValPhePheThrThrGluGluAlaSerTrpPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294478",
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001076",
      "geneNCBI_id": 657,
      "geneSymbol": "BMPR1A",
      "hgvs": [
        "NM_004329.3:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004320.2:p.Arg228Ter",
        "hgvsWellDefined": "NP_004320.2:p.Arg228_Ile532delinsThrIleAlaLysGlnIleGlnMetValArgGlnValGlyLysGlyArgTyrGlyGluValTrpMetGlyLysTrpArgGlyGluLysValAlaValLysValPhePheThrThrGluGluAlaSerTrpPheArgGluThrGluIleTyrGlnThrValLeuMetArgHisGluAsnIleLeuGlyPheIleAlaAlaAspIleLysGlyThrGlySerTrpThrGlnLeuTyrLeuIleThrAspTyrHisGluAsnGlySerLeuTyrAspPheLeuLysCysAlaThrLeuAspThrArgAlaLeuLeuLysLeuAlaTyrSerAlaAlaCysGlyLeuCysHisLeuHisThrGluIleTyrGlyThrGlnGlyLysProAlaIleAlaHisArgAspLeuLysSerLysAsnIleLeuIleLysLysAsnGlySerCysCysIleAlaAspLeuGlyLeuAlaValLysPheAsnSerAspThrAsnGluValAspValProLeuAsnThrArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluSerLeuAsnLysAsnHisPheGlnProTyrIleMetAlaAspIleTyrSerPheGlyLeuIleIleTrpGluMetAlaArgArgCysIleThrGlyGlyIleValGluGluTyrGlnLeuProTyrTyrAsnMetValProSerAspProSerTyrGluAspMetArgGluValValCysValLysArgLeuArgProIleValSerAsnArgTrpAsnSerAspGluCysLeuArgAlaValLeuLysLeuMetSerGluCysTrpAlaHisAsnProAlaSerArgLeuThrAlaLeuArgIleLysLysThrLeuAlaLysMetValGluSerGlnAspValLysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696108",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372037.8:c.682C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004329.3:c.682C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361107.2:p.Arg228Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004320.2:p.Arg228Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}