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  "@id": "http://reg.genome.network/allele/CA384899996",
  "communityStandardTitle": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS914262"
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
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    {
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      "proteinEffect": {
        "hgvs": "XP_011537310.1:p.Trp127Ter",
        "hgvsWellDefined": "XP_011537310.1:p.Trp127_Gln413delinsArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.-140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305047.1:n.-140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004733",
      "coordinates": [
        {
          "allele": "A",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_000020.3:c.650G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Trp217Ter",
        "hgvsWellDefined": "NP_000011.2:p.Trp217_Gln503delinsArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000388922.9:c.650G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000020.3:c.650G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Trp217Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Trp217Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915963456",
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NM_001077401.2:c.650G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Trp217Ter",
        "hgvsWellDefined": "NP_001070869.1:p.Trp217_Gln503delinsArgGlyLeuTrpHisGlyGluSerValAlaValLysIlePheSerSerArgAspGluGlnSerTrpPheArgGluThrGluIleTyrAsnThrValLeuLeuArgHisAspAsnIleLeuGlyPheIleAlaSerAspMetThrSerArgAsnSerSerThrGlnLeuTrpLeuIleThrHisTyrHisGluHisGlySerLeuTyrAspPheLeuGlnArgGlnThrLeuGluProHisLeuAlaLeuArgLeuAlaValSerAlaAlaCysGlyLeuAlaHisLeuHisValGluIlePheGlyThrGlnGlyLysProAlaIleAlaHisArgAspPheLysSerArgAsnValLeuValLysSerAsnLeuGlnCysCysIleAlaAspLeuGlyLeuAlaValMetHisSerGlnGlySerAspTyrLeuAspIleGlyAsnAsnProArgValGlyThrLysArgTyrMetAlaProGluValLeuAspGluGlnIleArgThrAspCysPheGluSerTyrLysTrpThrAspIleTrpAlaPheGlyLeuValLeuTrpGluIleAlaArgArgThrIleValAsnGlyIleValGluAspTyrArgProProPheTyrAspValValProAsnAspProSerPheGluAspMetLysLysValValCysValAspGlnGlnThrProThrIleProAsnArgLeuAlaAlaAspProValLeuSerGlyLeuAlaGlnMetMetArgGluCysTrpTyrProAsnProSerAlaArgLeuThrAlaLeuArgIleLysLysThrLeuGlnLysIleSerAsnSerProGluLysProLysValIleGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}