{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043028",
  "communityStandardTitle": [
    "NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360306[alleleid]",
        "alleleId": 360306,
        "preferredName": "NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372381",
        "RCV": [
          "RCV000413356",
          "RCV000787179",
          "RCV002348127"
        ],
        "variationId": 372381
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.36099434G>A?assembly=hg19",
        "id": "chr17:g.36099434G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.37739443G>A?assembly=hg38",
        "id": "chr17:g.37739443G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517744",
        "rs": 1057517744
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37739443,
          "referenceAllele": "G",
          "start": 37739442
        }
      ],
      "hgvs": [
        "NC_000017.11:g.37739443G>A",
        "CM000679.2:g.37739443G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 36099434,
          "referenceAllele": "G",
          "start": 36099433
        }
      ],
      "hgvs": [
        "NC_000017.10:g.36099434G>A",
        "CM000679.1:g.36099434G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 33173547,
          "referenceAllele": "G",
          "start": 33173546
        }
      ],
      "hgvs": [
        "NC_000017.9:g.33173547G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10664,
          "referenceAllele": "C",
          "start": 10663
        }
      ],
      "hgvs": [
        "NG_013019.2:g.10664C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002666"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617811.5:c.541C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000480291.1:p.Arg181_Trp557delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617811.5:c.541C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000458.4:c.541C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480291.1:p.Arg181Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000449.1:p.Arg181Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
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      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000613727.4:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477524.1:p.Arg181Ter",
        "hgvsWellDefined": "ENSP00000477524.1:p.Arg181_Gln457delinsGlnPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnMetSerSerThrSerLeuValMetProThrHisHisLeuLeuArgAlaGlnGlnGlnGlyProCysPheProHisHisHisProLeuGlySerCysHisGlyLysAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000614313.4:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482529.1:p.Arg181Ter",
        "hgvsWellDefined": "ENSP00000482529.1:p.Arg181_Gln548delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetSerSerThrSerLeuValMetProThrHisHisLeuLeuArgAlaGlnGlnGlnGlyProCysPheProHisHisHisProLeuGlySerCysHisGlyLysAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617272.4:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478682.1:p.Arg181Ter",
        "hgvsWellDefined": "ENSP00000478682.1:p.Arg181_Pro425delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetAspLeuSerLeuArgArgArgPheAlaProSerGlnHisLeuAspGluTyrProGlnProLeuProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000617811.4:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480291.1:p.Arg181Ter",
        "hgvsWellDefined": "ENSP00000480291.1:p.Arg181_Trp557delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000620125.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481245.1:p.Arg181Ter",
        "hgvsWellDefined": "ENSP00000481245.1:p.Arg181_Ala293delinsGlnPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnArgLeuArgSerAlaLysGluProGlnGlnGluArgGluAlaLeuValGluGluCysAsnArgGlnAsnValCysSerGluGlyCysProProProLysProThrAlaTrpAlaProThrTrpSerLeuArgSerValSerThrThrGlyLeuGlnThrAlaGlyArgArgArgHisSerGlyLysSerTrpProTrpThrProIleAlaProThrArgLeuThrAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "ENST00000621123.4:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482711.1:p.Arg181Ter",
        "hgvsWellDefined": "ENSP00000482711.1:p.Arg181_Trp531delinsGlnPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377521",
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_000458.3:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000449.1:p.Arg181Ter",
        "hgvsWellDefined": "NP_000449.1:p.Arg181_Trp557delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826006705",
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001165923.3:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159395.1:p.Arg181Ter",
        "hgvsWellDefined": "NP_001159395.1:p.Arg181_Trp531delinsGlnPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019688",
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001304286.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291215.1:p.Arg181Ter",
        "hgvsWellDefined": "NP_001291215.1:p.Arg181_Gln457delinsGlnPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnMetSerSerThrSerLeuValMetProThrHisHisLeuLeuArgAlaGlnGlnGlnGlyProCysPheProHisHisHisProLeuGlySerCysHisGlyLysAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525160.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523462.1:p.Arg181Ter",
        "hgvsWellDefined": "XP_011523462.1:p.Arg181_Gln548delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetSerSerThrSerLeuValMetProThrHisHisLeuLeuArgAlaGlnGlnGlnGlyProCysPheProHisHisHisProLeuGlySerCysHisGlyLysAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525161.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523463.1:p.Arg181Ter",
        "hgvsWellDefined": "XP_011523463.1:p.Arg181_Trp492delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525162.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523464.1:p.Arg181Ter",
        "hgvsWellDefined": "XP_011523464.1:p.Arg181_Leu380delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValLeuTrpMetGluThrGluMetSerGlyArgSerSerSerLeuSerThrThrLeuGlnProGlyGluLeuGluGlyLeuHisProTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525163.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523465.1:p.Arg181Ter",
        "hgvsWellDefined": "XP_011523465.1:p.Arg181_Cys353delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyThrValCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525164.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523466.1:p.Arg181Ter",
        "hgvsWellDefined": "XP_011523466.1:p.Arg181_Gln522delinsGlnPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetSerSerThrSerLeuValMetProThrHisHisLeuLeuArgAlaGlnGlnGlnGlyProCysPheProHisHisHisProLeuGlySerCysHisGlyLysAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525162.2:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523464.1:p.Arg181Ter",
        "hgvsWellDefined": "XP_011523464.1:p.Arg181_Leu380delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValLeuTrpMetGluThrGluMetSerGlyArgSerSerSerLeuSerThrThrLeuGlnProGlyGluLeuGluGlyLeuHisProTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "XM_011525163.2:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523465.1:p.Arg181Ter",
        "hgvsWellDefined": "XP_011523465.1:p.Arg181_Cys353delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyThrValCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377521",
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_000458.4:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000449.1:p.Arg181Ter",
        "hgvsWellDefined": "NP_000449.1:p.Arg181_Trp557delinsGlnPheAsnGlnThrValGlnSerSerGlyAsnMetThrAspLysSerSerGlnAspGlnLeuLeuPheLeuPheProGluPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662451",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617811.5:c.541C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000458.4:c.541C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480291.1:p.Arg181Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000449.1:p.Arg181Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826006705",
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001165923.4:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159395.1:p.Arg181Ter",
        "hgvsWellDefined": "NP_001159395.1:p.Arg181_Trp531delinsGlnPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnSerLeuAsnThrSerGlnAlaGlnSerValProValIleAsnSerValAlaGlySerLeuAlaAlaLeuGlnProValGlnPheSerGlnGlnLeuHisSerProHisGlnGlnProLeuMetGlnGlnSerProGlySerHisMetAlaGlnGlnProPheMetAlaAlaValThrGlnLeuGlnAsnSerHisMetTyrAlaHisLysGlnGluProProGlnTyrSerHisThrSerArgPheProSerAlaMetValValThrAspThrSerSerIleSerThrLeuThrAsnMetSerSerSerLysGlnCysProLeuGlnAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678431"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019688",
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011630",
      "geneNCBI_id": 6928,
      "geneSymbol": "HNF1B",
      "hgvs": [
        "NM_001304286.2:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291215.1:p.Arg181Ter",
        "hgvsWellDefined": "NP_001291215.1:p.Arg181_Gln457delinsGlnPheSerGlnGlnSerHisGlyProGlyGlnSerAspAspAlaCysSerGluProThrAsnLysLysMetArgArgAsnArgPheLysTrpGlyProAlaSerGlnGlnIleLeuTyrGlnAlaTyrAspArgGlnLysAsnProSerLysGluGluArgGluAlaLeuValGluGluCysAsnArgAlaGluCysLeuGlnArgGlyValSerProSerLysAlaHisGlyLeuGlySerAsnLeuValThrGluValArgValTyrAsnTrpPheAlaAsnArgArgLysGluGluAlaPheArgGlnLysLeuAlaMetAspAlaTyrSerSerAsnGlnThrHisSerLeuAsnProLeuLeuSerHisGlySerProHisHisGlnProSerSerSerProProAsnLysLeuSerGlyValArgTyrSerGlnGlnGlyAsnAsnGluIleThrSerSerSerThrIleSerHisHisGlyAsnSerAlaMetValThrSerGlnSerValLeuGlnGlnValSerProAlaSerLeuAspProGlyHisAsnLeuLeuSerProAspGlyLysMetIleSerValSerGlyGlyGlyLeuProProValSerThrLeuThrAsnIleHisSerLeuSerHisHisAsnProGlnGlnSerGlnAsnLeuIleMetThrProLeuSerGlyValMetAlaIleAlaGlnMetSerSerThrSerLeuValMetProThrHisHisLeuLeuArgAlaGlnGlnGlnGlyProCysPheProHisHisHisProLeuGlySerCysHisGlyLysAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683637"
    }
  ],
  "type": "nucleotide"
}