{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573050894",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.89_297del (p.Gly30AspfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10142144,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 10141935
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141936_10142144del",
        "CM000665.2:g.10141936_10142144del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10183828,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 10183619
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183620_10183828del",
        "CM000665.1:g.10183620_10183828del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 10158828,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 10158619
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158620_10158828del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5510,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 5301
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5302_5510del",
        "LRG_322:g.5302_5510del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 359,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "ENSP00000512434.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44delinsProHis;Glu46_Glu47delinsGln;Gly49_Arg58del;Arg60Ser;Val62_Arg64delinsHisAsp;Val66_Asn67del;Arg69_Glu70delinsGly;Ser72_Gln73del;Ile75_Val84del;Pro86_Gly106del;Arg108_His110del;Tyr112_Thr117del;Val119_Phe122del;Val124_Val125del;Ala127_Val129delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 297,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "ENSP00000512435.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44delinsProHis;Glu46_Glu47delinsGln;Gly49_Arg58del;Arg60Ser;Val62_Arg64delinsHisAsp;Val66_Asn67del;Arg69_Glu70delinsGly;Ser72_Gln73del;Ile75_Val84del;Pro86_Gly106del;Arg108_His110del;Tyr112_Thr117del;Val119_Phe122del;Val124_Val125del;Ala127_Val129delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "ENSP00000512444.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44del;Glu46_Arg58delinsHis;Arg60_Val62delinsGln;Arg64_Glu70del;Ser72_Asn78del;Arg82_Val84del;Pro86_Trp88delinsAla;Asn90_Pro95del;Pro97_Gly104delinsArgCysArgAsp;Gly106del;Arg108_Leu116del;Leu118_Asp121del;Gly123_Leu129delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Gly30AspfsTer?",
        "hgvsWellDefined": "ENSP00000256474.3:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44del;Glu46_Arg58delinsHis;Arg60_Val62delinsGln;Arg64_Glu70del;Ser72_Asn78del;Arg82_Val84del;Pro86_Trp88delinsAla;Asn90_Pro95del;Pro97_Gly104delinsArgCysArgAsp;Gly106del;Arg108_Leu116del;Leu118_Asp121del;Gly123_Leu129delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.89_297del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.89_297del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Gly30AspfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Gly30AspfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1137,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Gly30AspfsTer?",
        "hgvsWellDefined": "ENSP00000256474.2:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44del;Glu46_Arg58delinsHis;Arg60_Val62delinsGln;Arg64_Glu70del;Ser72_Asn78del;Arg82_Val84del;Pro86_Trp88delinsAla;Asn90_Pro95del;Pro97_Gly104delinsArgCysArgAsp;Gly106del;Arg108_Leu116del;Leu118_Asp121del;Gly123_Leu129delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 357,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Gly30AspfsTer?",
        "hgvsWellDefined": "ENSP00000344757.2:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44delinsProHis;Glu46_Glu47delinsGln;Gly49_Arg58del;Arg60_Arg64del;Asn67Tyr;Arg69del;Pro71_Ser80delinsArgAlaMet;Arg82_Leu85del;Val87_Asp92del;Glu94Cys;Gln96Glu;Tyr98_His110del;Tyr112_Val129del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 510,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.89_297del",
        "LRG_322t1:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44del;Glu46_Arg58delinsHis;Arg60_Val62delinsGln;Arg64_Glu70del;Ser72_Asn78del;Arg82_Val84del;Pro86_Trp88delinsAla;Asn90_Pro95del;Pro97_Gly104delinsArgCysArgAsp;Gly106del;Arg108_Leu116del;Leu118_Asp121del;Gly123_Leu129delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 510,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44delinsProHis;Glu46_Glu47delinsGln;Gly49_Arg58del;Arg60_Arg64del;Asn67Tyr;Arg69del;Pro71_Ser80delinsArgAlaMet;Arg82_Leu85del;Val87_Asp92del;Glu94Cys;Gln96Glu;Tyr98_His110del;Tyr112_Val129del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 382,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "XP_011532380.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44delinsProHis;Glu46_Glu47delinsGln;Gly49_Arg58del;Arg60Ser;Val62_Arg64delinsHisAsp;Val66_Asn67del;Arg69_Glu70delinsGly;Ser72_Gln73del;Ile75_Val84del;Pro86_Gly106del;Arg108_His110del;Tyr112_Thr117del;Val119_Phe122del;Val124_Val125del;Ala127_Val129delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 510,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44delinsProHis;Glu46_Glu47delinsGln;Gly49_Arg58del;Arg60Ser;Val62_Arg64delinsHisAsp;Val66_Asn67del;Arg69_Glu70delinsGly;Ser72_Gln73del;Ile75_Val84del;Pro86_Gly106del;Arg108_His110del;Tyr112_Thr117del;Val119_Phe122del;Val124_Val125del;Ala127_Val129delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "NP_000542.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44del;Glu46_Arg58delinsHis;Arg60_Val62delinsGln;Arg64_Glu70del;Ser72_Asn78del;Arg82_Val84del;Pro86_Trp88delinsAla;Asn90_Pro95del;Pro97_Gly104delinsArgCysArgAsp;Gly106del;Arg108_Leu116del;Leu118_Asp121del;Gly123_Leu129delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.89_297del"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.89_297del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Gly30AspfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Gly30AspfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "NP_001341652.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44delinsProHis;Glu46_Glu47delinsGln;Gly49_Arg58del;Arg60Ser;Val62_Arg64delinsHisAsp;Val66_Asn67del;Arg69_Glu70delinsGly;Ser72_Gln73del;Ile75_Val84del;Pro86_Gly106del;Arg108_His110del;Tyr112_Thr117del;Val119_Phe122del;Val124_Val125del;Ala127_Val129delinsArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "GGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTCCGGCCCGGAGGAACTGGGCGCCGAGGAGGAGATGGAGGCCGGGCGGCCGCGGCCCGTGCTGCGCTCGGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATCGCAGTCCGCGCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCGCAGCCCTACCCA",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.89_297del"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Gly30AspfsTer?",
        "hgvsWellDefined": "NP_937799.1:p.[Gly30_Gly34delinsAspAlaAla;Glu36_Ser38delinsTrpHis;Glu41_Gly44delinsProHis;Glu46_Glu47delinsGln;Gly49_Arg58del;Arg60_Arg64del;Asn67Tyr;Arg69del;Pro71_Ser80delinsArgAlaMet;Arg82_Leu85del;Val87_Asp92del;Glu94Cys;Gln96Glu;Tyr98_His110del;Tyr112_Val129del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}