{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA477125909",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.499C>A (p.Arg167=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118962123C>A?assembly=hg19",
        "id": "chr11:g.118962123C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204101",
        "rs": 118204101
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119091413-C-A?dataset=gnomad_r4",
        "id": "11-119091413-C-A",
        "variant": "11:119091413 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119091413,
          "referenceAllele": "C",
          "start": 119091412
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119091413C>A",
        "CM000673.2:g.119091413C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118962123,
          "referenceAllele": "C",
          "start": 118962122
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118962123C>A",
        "CM000673.1:g.118962123C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118467333,
          "referenceAllele": "C",
          "start": 118467332
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118467333C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11537,
          "referenceAllele": "C",
          "start": 11536
        }
      ],
      "hgvs": [
        "NG_008093.1:g.11537C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.334C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686690.1:n.1349C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2240,
          "referenceAllele": "C",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.2240C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.1083C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.481C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Arg161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 447,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.2:n.448-448C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.6:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.2:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.6:c.421C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Arg141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "endIntronDirection": "-",
          "endIntronOffset": 447,
          "referenceAllele": "C",
          "start": 634,
          "startIntronDirection": "-",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.448-448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:n.448-448C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "endIntronDirection": "-",
          "endIntronOffset": 447,
          "referenceAllele": "C",
          "start": 492,
          "startIntronDirection": "-",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.493-448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:n.493-448C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 157,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648488.1:c.*85+157C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498079.1:n.*85+157C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.716C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "endIntronDirection": "-",
          "endIntronOffset": 447,
          "referenceAllele": "C",
          "start": 388,
          "startIntronDirection": "-",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649868.1:c.*207-448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497548.1:n.*207-448C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "C",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.430C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "C",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1325C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.499C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.499C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.499C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg167="
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg167="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.499C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "-",
          "endIntronOffset": 447,
          "referenceAllele": "C",
          "start": 414,
          "startIntronDirection": "-",
          "startIntronOffset": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.1:n.415-448C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535253.5:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442079.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535793.5:c.*394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439904.1:n.*394C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000539986.5:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440092.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 944,
          "referenceAllele": "C",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.944C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542345.5:n.637C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542822.5:c.*435C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444817.1:n.*435C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.445C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.734C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544360.5:n.467C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.499C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "referenceAllele": "C",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545621.5:c.*394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444849.1:n.*394C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.787C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.5:c.421C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Arg141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832443849",
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.499C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.499C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057221321",
      "coordinates": [
        {
          "allele": "A",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.445C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 988,
          "referenceAllele": "C",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.334C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Arg112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832443849",
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.499C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.499C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.499C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg167="
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg167="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.445C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.445C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.499C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057221321",
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.448C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}