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  "@id": "http://reg.genome.network/allele/CA388452649",
  "communityStandardTitle": [
    "NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)"
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        "preferredName": "NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)"
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064541",
        "RCV": [
          "RCV003989082"
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        "variationId": 3064541
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.78492417C>A?assembly=hg19",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2501608750",
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    ]
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    {
      "chromosome": "13",
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    {
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      "referenceGenome": "NCBI36",
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  ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS757157"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767527"
    },
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS768968"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768969",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000646607.2:c.292G>T"
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          "RefSeq": {
            "hgvs": "NM_001122659.3:c.292G>T"
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        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_001116131.1:p.Glu98Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769153"
    },
    {
      "coordinates": [
        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000366416.4:p.Glu188_Ser532delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
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      ],
      "gene": "http://reg.genome.network/gene/GN003180",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000486202.1:p.Glu98_Asn436delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysAlaGlyProHisValGlyAsnLysLeuValMetLeuPheSerValAsnIleGluCysAspGlyThrValAsnGlnAsnProThrMetTrpProGluArgLysSerAsnAsnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042584",
      "coordinates": [
        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
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      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_000115.3:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000106.1:p.Glu98Ter",
        "hgvsWellDefined": "NP_000106.1:p.Glu98_Ser442delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825584887",
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_001122659.2:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116131.1:p.Glu98Ter",
        "hgvsWellDefined": "NP_001116131.1:p.Glu98_Ser442delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253662",
      "coordinates": [
        {
          "allele": "T",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_001201397.1:c.562G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188326.1:p.Glu188Ter",
        "hgvsWellDefined": "NP_001188326.1:p.Glu188_Ser532delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741906775",
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_003991.3:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003982.1:p.Glu98Ter",
        "hgvsWellDefined": "NP_003982.1:p.Glu98_Asn436delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysAlaGlyProHisValGlyAsnLysLeuValMetLeuPheSerValAsnIleGluCysAspGlyThrValAsnGlnAsnProThrMetTrpProGluArgLysSerAsnAsnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "XM_005266275.2:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266332.2:p.Glu98Ter",
        "hgvsWellDefined": "XP_005266332.2:p.Glu98_His336delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnLeuSerValGlyIleGlyLeuTyrTrpTyrGlnHisGlyPheThrGluPheLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "XM_011534949.1:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533251.1:p.Glu98Ter",
        "hgvsWellDefined": "XP_011533251.1:p.Glu98_Ser442delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101960"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042584",
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_000115.4:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000106.1:p.Glu98Ter",
        "hgvsWellDefined": "NP_000106.1:p.Glu98_Ser442delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825584887",
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_001122659.3:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116131.1:p.Glu98Ter",
        "hgvsWellDefined": "NP_001116131.1:p.Glu98_Ser442delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646607.2:c.292G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001122659.3:c.292G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493527.1:p.Glu98Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001116131.1:p.Glu98Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042584",
      "coordinates": [
        {
          "allele": "T",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_000115.5:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000106.1:p.Glu98Ter",
        "hgvsWellDefined": "NP_000106.1:p.Glu98_Ser442delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysSerCysLeuCysCysTrpCysGlnSerPheGluGluLysGlnSerLeuGluGluLysGlnSerCysLeuLysPheLysAlaAsnAspHisGlyTyrAspAsnPheArgSerSerAsnLysTyrSerSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674708"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741906775",
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003180",
      "geneNCBI_id": 1910,
      "geneSymbol": "EDNRB",
      "hgvs": [
        "NM_003991.4:c.292G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003982.1:p.Glu98Ter",
        "hgvsWellDefined": "NP_003982.1:p.Glu98_Asn436delinsThrPheLysTyrIleAsnThrValValSerCysLeuValPheValLeuGlyIleIleGlyAsnSerThrLeuLeuArgIleIleTyrLysAsnLysCysMetArgAsnGlyProAsnIleLeuIleAlaSerLeuAlaLeuGlyAspLeuLeuHisIleValIleAspIleProIleAsnValTyrLysLeuLeuAlaGluAspTrpProPheGlyAlaGluMetCysLysLeuValProPheIleGlnLysAlaSerValGlyIleThrValLeuSerLeuCysAlaLeuSerIleAspArgTyrArgAlaValAlaSerTrpSerArgIleLysGlyIleGlyValProLysTrpThrAlaValGluIleValLeuIleTrpValValSerValValLeuAlaValProGluAlaIleGlyPheAspIleIleThrMetAspTyrLysGlySerTyrLeuArgIleCysLeuLeuHisProValGlnLysThrAlaPheMetGlnPheTyrLysThrAlaLysAspTrpTrpLeuPheSerPheTyrPheCysLeuProLeuAlaIleThrAlaPhePheTyrThrLeuMetThrCysGluMetLeuArgLysLysSerGlyMetGlnIleAlaLeuAsnAspHisLeuLysGlnArgArgGluValAlaLysThrValPheCysLeuValLeuValPheAlaLeuCysTrpLeuProLeuHisLeuSerArgIleLeuLysLeuThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeuLeuSerPheLeuLeuValLeuAspTyrIleGlyIleAsnMetAlaSerLeuAsnSerCysIleAsnProIleAlaLeuTyrLeuValSerLysArgPheLysAsnCysPheLysAlaGlyProHisValGlyAsnLysLeuValMetLeuPheSerValAsnIleGluCysAspGlyThrValAsnGlnAsnProThrMetTrpProGluArgLysSerAsnAsnAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696010"
    }
  ],
  "type": "nucleotide"
}