{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2003783002",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.446G= (p.Arg149=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204098",
        "rs": 118204098
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 119090213,
          "referenceAllele": "G",
          "start": 119090212
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119090213G=",
        "CM000673.2:g.119090213G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118960923,
          "referenceAllele": "G",
          "start": 118960922
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118960923G=",
        "CM000673.1:g.118960923G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118466133,
          "referenceAllele": "G",
          "start": 118466132
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118466133G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10337,
          "referenceAllele": "G",
          "start": 10336
        }
      ],
      "hgvs": [
        "NG_008093.1:g.10337G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.281G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:p.Arg94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686690.1:n.1296G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2187,
          "referenceAllele": "G",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.2187G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1030,
          "referenceAllele": "G",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.1030G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.428G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.2:n.395G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.6:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.2:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.6:c.368G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Arg123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.440G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:p.Arg147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648488.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498079.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.663G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649868.1:c.*154G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497548.1:n.*154G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.377G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Arg126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1272,
          "referenceAllele": "G",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.446G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.446G="
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.446G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg149="
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg149="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.446G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.1:n.362G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535253.5:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442079.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535793.5:c.*341G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439904.1:n.*341G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000539986.5:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440092.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.891G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542345.5:n.584G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "G",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542822.5:c.*382G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444817.1:n.*382G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.681G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544360.5:n.414G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.446G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545621.5:c.*341G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444849.1:n.*341G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.734G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.5:c.368G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Arg123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832443856",
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.446G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.446G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057221912",
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.281G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Arg94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832443856",
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.446G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.446G="
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.446G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg149="
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg149="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "G",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.446G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg149="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057221912",
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.395G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}