{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229596344",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.723C>G (p.Pro241=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=867121[alleleid]",
        "alleleId": 867121,
        "preferredName": "NM_000190.4(HMBS):c.723C>G (p.Pro241=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/879665",
        "RCV": [
          "RCV001107358",
          "RCV002069758"
        ],
        "variationId": 879665
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118963185C>G?assembly=hg19",
        "id": "chr11:g.118963185C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119092475C>G?assembly=hg38",
        "id": "chr11:g.119092475C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202067277",
        "rs": 202067277
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118963185-C-G?dataset=gnomad_r2_1",
        "id": "11-118963185-C-G",
        "variant": "11:118963185 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119092475-C-G?dataset=gnomad_r4",
        "id": "11-119092475-C-G",
        "variant": "11:119092475 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 119092475,
          "referenceAllele": "C",
          "start": 119092474
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119092475C>G",
        "CM000673.2:g.119092475C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118963185,
          "referenceAllele": "C",
          "start": 118963184
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118963185C>G",
        "CM000673.1:g.118963185C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 118468395,
          "referenceAllele": "C",
          "start": 118468394
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118468395C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12599,
          "referenceAllele": "C",
          "start": 12598
        }
      ],
      "hgvs": [
        "NG_008093.1:g.12599C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.558C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:p.Pro186="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2704,
          "referenceAllele": "C",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.2704C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.1547C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.705C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Pro235="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.6:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.2:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.533C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:p.Pro178Arg",
        "hgvsWellDefined": "ENSP00000491061.1:p.Pro178Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 617,
          "referenceAllele": "C",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.617C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:p.Pro206Arg",
        "hgvsWellDefined": "ENSP00000498044.1:p.Pro206Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.1180C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.654C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Pro218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1549,
          "referenceAllele": "C",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1549C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.723C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Pro241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.723C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.723C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Pro241="
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Pro241="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.723C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Pro241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.1168C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "endIntronDirection": "-",
          "endIntronOffset": 282,
          "referenceAllele": "C",
          "start": 891,
          "startIntronDirection": "-",
          "startIntronOffset": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.601-283C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:n.601-283C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.630C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:p.Pro210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.1198C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544182.1:n.938C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 282,
          "referenceAllele": "C",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.652-283C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:n.652-283C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "C",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545621.5:c.*858C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444849.1:n.*858C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1251,
          "referenceAllele": "C",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.1251C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825098379",
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.723C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Pro241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333207",
      "coordinates": [
        {
          "allele": "G",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 282,
          "referenceAllele": "C",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.652-283C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:n.652-283C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "endIntronDirection": "-",
          "endIntronOffset": 282,
          "referenceAllele": "C",
          "start": 899,
          "startIntronDirection": "-",
          "startIntronOffset": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.601-283C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:n.601-283C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Pro223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.558C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Pro186="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825098379",
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.723C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Pro241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.723C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.723C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Pro241="
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Pro241="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333207",
      "coordinates": [
        {
          "allele": "G",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "C",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.669C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Pro223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1346,
          "referenceAllele": "C",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.672C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "endIntronDirection": "-",
          "endIntronOffset": 282,
          "referenceAllele": "C",
          "start": 767,
          "startIntronDirection": "-",
          "startIntronOffset": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.598-283C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:n.598-283C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "endIntronDirection": "-",
          "endIntronOffset": 282,
          "referenceAllele": "C",
          "start": 804,
          "startIntronDirection": "-",
          "startIntronOffset": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.652-283C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:n.652-283C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "endIntronDirection": "-",
          "endIntronOffset": 282,
          "referenceAllele": "C",
          "start": 895,
          "startIntronDirection": "-",
          "startIntronOffset": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.601-283C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:n.601-283C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}