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        "hgvsWellDefined": "XP_005271590.1:p.Arg132_His343delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "C",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Arg94Ter",
        "hgvsWellDefined": "XP_011541098.1:p.Arg95_His306delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251847",
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg149Ter",
        "hgvsWellDefined": "NP_000181.2:p.Arg150_His361delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.445C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.445C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg149Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg149Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA251846",
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg132Ter",
        "hgvsWellDefined": "NP_001019553.1:p.Arg133_His344delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Arg131Ter",
        "hgvsWellDefined": "XP_005271590.1:p.Arg132_His343delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Arg132Ter",
        "hgvsWellDefined": "XP_016873118.1:p.Arg133_His344delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Arg131Ter",
        "hgvsWellDefined": "XP_024304228.1:p.Arg132_His303delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645470631",
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg149Ter",
        "hgvsWellDefined": "NP_001245137.1:p.Arg150_His321delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454977",
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg132Ter",
        "hgvsWellDefined": "NP_001245138.1:p.Arg133_His304delinsAlaAlaGlnLeuGlnArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}