{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16610660",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=266101",
        "active": true,
        "id": "COSM266101"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=392462[alleleid]",
        "alleleId": 392462,
        "preferredName": "NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409826",
        "RCV": [
          "RCV000461193",
          "RCV001376634",
          "RCV001003700",
          "RCV001810954"
        ],
        "variationId": 409826
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203384918C>T?assembly=hg19",
        "id": "chr2:g.203384918C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202520195C>T?assembly=hg38",
        "id": "chr2:g.202520195C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502581",
        "rs": 1060502581
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-202520195-C-T?dataset=gnomad_r4",
        "id": "2-202520195-C-T",
        "variant": "2:202520195 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 202520195,
          "referenceAllele": "C",
          "start": 202520194
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202520195C>T",
        "CM000664.2:g.202520195C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203384918,
          "referenceAllele": "C",
          "start": 203384917
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203384918C>T",
        "CM000664.1:g.203384918C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 203093163,
          "referenceAllele": "C",
          "start": 203093162
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203093163C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148869,
          "referenceAllele": "C",
          "start": 148868
        }
      ],
      "hgvs": [
        "NG_009363.1:g.148869C>T",
        "LRG_712:g.148869C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.961C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Arg321Ter",
        "hgvsWellDefined": "ENSP00000363708.4:p.Arg321_Leu1038delinsGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.961C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.961C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Arg321Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Arg321Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "C",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:p.Arg298Ter",
        "hgvsWellDefined": "ENSP00000491062.1:p.Arg298_Glu505del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "C",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.961C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:p.Arg321Ter",
        "hgvsWellDefined": "ENSP00000363702.2:p.Arg321_Arg530delinsGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.961C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Arg321Ter",
        "hgvsWellDefined": "ENSP00000363708.4:p.Arg321_Leu1038delinsGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438401",
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.961C>T",
        "LRG_712t1:c.961C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Arg321Ter",
        "hgvsWellDefined": "NP_001195.2:p.Arg321_Leu1038delinsGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "C",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.961C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:p.Arg321Ter",
        "hgvsWellDefined": "XP_011509989.1:p.Arg321_Leu1037delinsGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnSerGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "C",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.961C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:p.Arg321Ter",
        "hgvsWellDefined": "XP_011509990.1:p.Arg321_Arg530delinsGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438401",
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.961C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Arg321Ter",
        "hgvsWellDefined": "NP_001195.2:p.Arg321_Leu1038delinsGlyAspHisTyrLysProAlaIleSerHisArgAspLeuAsnSerArgAsnValLeuValLysAsnAspGlyThrCysValIleSerAspPheGlyLeuSerMetArgLeuThrGlyAsnArgLeuValArgProGlyGluGluAspAsnAlaAlaIleSerGluValGlyThrIleArgTyrMetAlaProGluValLeuGluGlyAlaValAsnLeuArgAspCysGluSerAlaLeuLysGlnValAspMetTyrAlaLeuGlyLeuIleTyrTrpGluIlePheMetArgCysThrAspLeuPheProGlyGluSerValProGluTyrGlnMetAlaPheGlnThrGluValGlyAsnHisProThrPheGluAspMetGlnValLeuValSerArgGluLysGlnArgProLysPheProGluAlaTrpLysGluAsnSerLeuAlaValArgSerLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.961C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.961C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Arg321Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Arg321Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}