{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251834",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.755C>T (p.Ala252Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16512[alleleid]",
        "alleleId": 16512,
        "preferredName": "NM_000190.4(HMBS):c.755C>T (p.Ala252Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1473",
        "RCV": [
          "RCV000001538"
        ],
        "variationId": 1473
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-118963217-C-T",
        "id": "11-118963217-C-T",
        "variant": "11:118963217 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118963217C>T?assembly=hg19",
        "id": "chr11:g.118963217C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119092507C>T?assembly=hg38",
        "id": "chr11:g.119092507C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204114",
        "rs": 118204114
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118963217-C-T?dataset=gnomad_r2_1",
        "id": "11-118963217-C-T",
        "variant": "11:118963217 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119092507-C-T?dataset=gnomad_r3",
        "id": "11-119092507-C-T",
        "variant": "11:119092507 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119092507-C-T?dataset=gnomad_r4",
        "id": "11-119092507-C-T",
        "variant": "11:119092507 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 119092507,
          "referenceAllele": "C",
          "start": 119092506
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119092507C>T",
        "CM000673.2:g.119092507C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118963217,
          "referenceAllele": "C",
          "start": 118963216
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118963217C>T",
        "CM000673.1:g.118963217C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118468427,
          "referenceAllele": "C",
          "start": 118468426
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118468427C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12631,
          "referenceAllele": "C",
          "start": 12630
        }
      ],
      "hgvs": [
        "NG_008093.1:g.12631C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:p.Ala197Val",
        "hgvsWellDefined": "ENSP00000509288.1:p.Ala197Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2736,
          "referenceAllele": "C",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.2736C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.1579C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.737C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Ala246Val",
        "hgvsWellDefined": "ENSP00000392041.3:p.Ala246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.565C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:p.Pro189Ser",
        "hgvsWellDefined": "ENSP00000491061.1:p.Pro189Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:p.Pro217Ser",
        "hgvsWellDefined": "ENSP00000498044.1:p.Pro217Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Ala235Val",
        "hgvsWellDefined": "ENSP00000497255.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.1212C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1376,
          "referenceAllele": "C",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Ala229Val",
        "hgvsWellDefined": "ENSP00000496970.1:p.Ala229Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1581C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.755C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Ala252Val",
        "hgvsWellDefined": "ENSP00000498786.1:p.Ala252Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.755C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.755C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Ala252Val"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Ala252Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.755C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Ala252Val",
        "hgvsWellDefined": "ENSP00000278715.3:p.Ala252Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Ala235Val",
        "hgvsWellDefined": "ENSP00000376584.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Ala235Val",
        "hgvsWellDefined": "ENSP00000392041.2:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Ala235Val",
        "hgvsWellDefined": "ENSP00000444730.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.1200C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 891,
          "endIntronDirection": "-",
          "endIntronOffset": 250,
          "referenceAllele": "C",
          "start": 891,
          "startIntronDirection": "-",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.601-251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:n.601-251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.662C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:p.Ala221Val",
        "hgvsWellDefined": "ENSP00000445429.1:p.Ala221Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.1230C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544182.1:n.970C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 250,
          "referenceAllele": "C",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.652-251C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:n.652-251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.1283C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103028",
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.755C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Ala252Val",
        "hgvsWellDefined": "NP_000181.2:p.Ala252Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251835",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Ala235Val",
        "hgvsWellDefined": "NP_001019553.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 250,
          "referenceAllele": "C",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.652-251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:n.652-251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "endIntronDirection": "-",
          "endIntronOffset": 250,
          "referenceAllele": "C",
          "start": 899,
          "startIntronDirection": "-",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.601-251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:n.601-251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Ala235Val",
        "hgvsWellDefined": "XP_005271588.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Ala235Val",
        "hgvsWellDefined": "XP_005271589.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.701C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Ala234Val",
        "hgvsWellDefined": "XP_005271590.1:p.Ala234Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Ala197Val",
        "hgvsWellDefined": "XP_011541098.1:p.Ala197Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103028",
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.755C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Ala252Val",
        "hgvsWellDefined": "NP_000181.2:p.Ala252Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.755C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.755C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Ala252Val"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Ala252Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA251835",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Ala235Val",
        "hgvsWellDefined": "NP_001019553.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "C",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.701C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Ala234Val",
        "hgvsWellDefined": "XP_005271590.1:p.Ala234Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.704C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Ala235Val",
        "hgvsWellDefined": "XP_016873118.1:p.Ala235Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "endIntronDirection": "-",
          "endIntronOffset": 250,
          "referenceAllele": "C",
          "start": 767,
          "startIntronDirection": "-",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.598-251C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:n.598-251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "endIntronDirection": "-",
          "endIntronOffset": 250,
          "referenceAllele": "C",
          "start": 804,
          "startIntronDirection": "-",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.652-251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:n.652-251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "endIntronDirection": "-",
          "endIntronOffset": 250,
          "referenceAllele": "C",
          "start": 895,
          "startIntronDirection": "-",
          "startIntronOffset": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.601-251C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:n.601-251C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}