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        "hgvsWellDefined": "XP_011541098.1:p.Gln100_His306delinsArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251801",
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Gln155Ter",
        "hgvsWellDefined": "NP_000181.2:p.Gln155_His361delinsArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.463C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.463C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Gln155Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Gln155Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA251800",
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Gln138Ter",
        "hgvsWellDefined": "NP_001019553.1:p.Gln138_His344delinsArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.409C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Gln137Ter",
        "hgvsWellDefined": "XP_005271590.1:p.Gln137_His343delinsArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Gln138Ter",
        "hgvsWellDefined": "XP_016873118.1:p.Gln138_His344delinsArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGlyAlaLeuGlyValGluValArgAlaLysAspGlnAspIleLeuAspLeuValGlyValLeuHisAspProGluThrLeuLeuArgCysIleAlaGluArgAlaPheLeuArgHisLeuGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.409C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Gln137Ter",
        "hgvsWellDefined": "XP_024304228.1:p.Gln137_His303delinsArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645470634",
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Gln155Ter",
        "hgvsWellDefined": "NP_001245137.1:p.Gln155_His321delinsArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454982",
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Gln138Ter",
        "hgvsWellDefined": "NP_001245138.1:p.Gln138_His304delinsArgLysPheProHisLeuGluPheArgSerIleArgGlyAsnLeuAsnThrArgLeuArgLysLeuAspGluGlnGlnGluPheSerAlaIleIleLeuAlaThrAlaGlyLeuGlnArgMetGlyTrpHisAsnArgValGlyGlnIleLeuHisProGluGluCysMetTyrAlaValGlyGlnGluGlyGlyCysSerValProValAlaValHisThrAlaMetLysAspGlyGlnLeuTyrLeuThrGlyGlyValTrpSerLeuAspGlySerAspSerIleGlnGluThrMetGlnAlaThrIleHisValProAlaGlnHisGluAspGlyProGluAspAspProGlnLeuValGlyIleThrAlaArgAsnIleProArgGlyProGlnLeuAlaAlaGlnAsnLeuGlyIleSerLeuAlaAsnLeuLeuLeuSerLysGlyAlaLysAsnIleLeuAspValAlaArgGlnLeuAsnAspAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}