{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229595374",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=639782[alleleid]",
        "alleleId": 639782,
        "preferredName": "NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/649348",
        "RCV": [
          "RCV000804261",
          "RCV001198558"
        ],
        "variationId": 649348
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118962141C>T?assembly=hg19",
        "id": "chr11:g.118962141C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119091431C>T?assembly=hg38",
        "id": "chr11:g.119091431C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/575222284",
        "rs": 575222284
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118962141-C-T?dataset=gnomad_r2_1",
        "id": "11-118962141-C-T",
        "variant": "11:118962141 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119091431-C-T?dataset=gnomad_r3",
        "id": "11-119091431-C-T",
        "variant": "11:119091431 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119091431-C-T?dataset=gnomad_r4",
        "id": "11-119091431-C-T",
        "variant": "11:119091431 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 119091431,
          "referenceAllele": "C",
          "start": 119091430
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119091431C>T",
        "CM000673.2:g.119091431C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118962141,
          "referenceAllele": "C",
          "start": 118962140
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118962141C>T",
        "CM000673.1:g.118962141C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118467351,
          "referenceAllele": "C",
          "start": 118467350
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118467351C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11555,
          "referenceAllele": "C",
          "start": 11554
        }
      ],
      "hgvs": [
        "NG_008093.1:g.11555C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:p.Arg118Trp",
        "hgvsWellDefined": "ENSP00000509288.1:p.Arg118Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686690.1:n.1367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2258,
          "referenceAllele": "C",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.2258C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1101,
          "referenceAllele": "C",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.1101C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.499C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Arg167Trp",
        "hgvsWellDefined": "ENSP00000392041.3:p.Arg167Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 429,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.2:n.448-430C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.6:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.2:p.Arg156Trp",
        "hgvsWellDefined": "ENSP00000438726.2:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.6:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Arg147Trp",
        "hgvsWellDefined": "ENSP00000445599.1:p.Arg147Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "endIntronDirection": "-",
          "endIntronOffset": 429,
          "referenceAllele": "C",
          "start": 634,
          "startIntronDirection": "-",
          "startIntronOffset": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.448-430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:n.448-430C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "endIntronDirection": "-",
          "endIntronOffset": 429,
          "referenceAllele": "C",
          "start": 492,
          "startIntronDirection": "-",
          "startIntronOffset": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.493-430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:n.493-430C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Arg156Trp",
        "hgvsWellDefined": "ENSP00000497255.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 175,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648488.1:c.*85+175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498079.1:n.*85+175C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.734C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "endIntronDirection": "-",
          "endIntronOffset": 429,
          "referenceAllele": "C",
          "start": 388,
          "startIntronDirection": "-",
          "startIntronOffset": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649868.1:c.*207-430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497548.1:n.*207-430C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.448C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Arg150Trp",
        "hgvsWellDefined": "ENSP00000496970.1:p.Arg150Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1343C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Arg173Trp",
        "hgvsWellDefined": "ENSP00000498786.1:p.Arg173Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.517C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.517C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg173Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg173Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Arg173Trp",
        "hgvsWellDefined": "ENSP00000278715.3:p.Arg173Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Arg156Trp",
        "hgvsWellDefined": "ENSP00000376584.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Arg156Trp",
        "hgvsWellDefined": "ENSP00000392041.2:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "endIntronDirection": "-",
          "endIntronOffset": 429,
          "referenceAllele": "C",
          "start": 414,
          "startIntronDirection": "-",
          "startIntronOffset": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.1:n.415-430C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535253.5:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442079.1:p.Arg156Trp",
        "hgvsWellDefined": "ENSP00000442079.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535793.5:c.*412C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439904.1:n.*412C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Arg156Trp",
        "hgvsWellDefined": "ENSP00000444730.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000539986.5:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440092.1:p.Arg156Trp",
        "hgvsWellDefined": "ENSP00000440092.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "C",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.962C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542345.5:n.655C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:p.Arg156Trp",
        "hgvsWellDefined": "ENSP00000443058.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542822.5:c.*453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444817.1:n.*453C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:p.Arg155Trp",
        "hgvsWellDefined": "ENSP00000445429.1:p.Arg155Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.752C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544360.5:n.485C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:p.Arg173Trp",
        "hgvsWellDefined": "ENSP00000438424.1:p.Arg173Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545621.5:c.*412C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444849.1:n.*412C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "referenceAllele": "C",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.805C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.5:c.439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Arg147Trp",
        "hgvsWellDefined": "ENSP00000445599.1:p.Arg147Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103158",
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg173Trp",
        "hgvsWellDefined": "NP_000181.2:p.Arg173Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333135",
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg156Trp",
        "hgvsWellDefined": "NP_001019553.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983839",
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg173Trp",
        "hgvsWellDefined": "NP_001245137.1:p.Arg173Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826455005",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg156Trp",
        "hgvsWellDefined": "NP_001245138.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Arg156Trp",
        "hgvsWellDefined": "XP_005271588.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 730,
          "referenceAllele": "C",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Arg156Trp",
        "hgvsWellDefined": "XP_005271589.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Arg155Trp",
        "hgvsWellDefined": "XP_005271590.1:p.Arg155Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1006,
          "referenceAllele": "C",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Arg118Trp",
        "hgvsWellDefined": "XP_011541098.1:p.Arg118Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103158",
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg173Trp",
        "hgvsWellDefined": "NP_000181.2:p.Arg173Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.517C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.517C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg173Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg173Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333135",
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg156Trp",
        "hgvsWellDefined": "NP_001019553.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Arg155Trp",
        "hgvsWellDefined": "XP_005271590.1:p.Arg155Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Arg156Trp",
        "hgvsWellDefined": "XP_016873118.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Arg155Trp",
        "hgvsWellDefined": "XP_024304228.1:p.Arg155Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983839",
      "coordinates": [
        {
          "allele": "T",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg173Trp",
        "hgvsWellDefined": "NP_001245137.1:p.Arg173Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826455005",
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.466C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg156Trp",
        "hgvsWellDefined": "NP_001245138.1:p.Arg156Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}