{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382898743",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.849G>C (p.Trp283Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2188061[alleleid]",
        "alleleId": 2188061,
        "preferredName": "NM_000190.4(HMBS):c.849G>C (p.Trp283Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2132220",
        "RCV": [
          "RCV003036632"
        ],
        "variationId": 2132220
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118963668G>C?assembly=hg19",
        "id": "chr11:g.118963668G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119092958G>C?assembly=hg38",
        "id": "chr11:g.119092958G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204117",
        "rs": 118204117
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118963668-G-C?dataset=gnomad_r2_1",
        "id": "11-118963668-G-C",
        "variant": "11:118963668 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119092958-G-C?dataset=gnomad_r3",
        "id": "11-119092958-G-C",
        "variant": "11:119092958 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119092958-G-C?dataset=gnomad_r4",
        "id": "11-119092958-G-C",
        "variant": "11:119092958 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 119092958,
          "referenceAllele": "G",
          "start": 119092957
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119092958G>C",
        "CM000673.2:g.119092958G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118963668,
          "referenceAllele": "G",
          "start": 118963667
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118963668G>C",
        "CM000673.1:g.118963668G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118468878,
          "referenceAllele": "G",
          "start": 118468877
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118468878G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13082,
          "referenceAllele": "G",
          "start": 13081
        }
      ],
      "hgvs": [
        "NG_008093.1:g.13082G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:p.Trp228Cys",
        "hgvsWellDefined": "ENSP00000509288.1:p.Trp228Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3064,
          "referenceAllele": "G",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.3064G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.1673G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.831G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Trp277Cys",
        "hgvsWellDefined": "ENSP00000392041.3:p.Trp277Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.*86G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:n.*86G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.743G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:n.743G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Trp266Cys",
        "hgvsWellDefined": "ENSP00000497255.1:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "G",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.780G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Trp260Cys",
        "hgvsWellDefined": "ENSP00000496970.1:p.Trp260Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1675G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.849G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Trp283Cys",
        "hgvsWellDefined": "ENSP00000498786.1:p.Trp283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.849G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.849G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Trp283Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Trp283Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.849G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Trp283Cys",
        "hgvsWellDefined": "ENSP00000278715.3:p.Trp283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Trp266Cys",
        "hgvsWellDefined": "ENSP00000376584.1:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1061,
          "referenceAllele": "G",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Trp266Cys",
        "hgvsWellDefined": "ENSP00000392041.2:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Trp266Cys",
        "hgvsWellDefined": "ENSP00000444730.1:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000539045.1:n.348G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.1294G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.678G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:p.Trp226Cys",
        "hgvsWellDefined": "ENSP00000443058.1:p.Trp226Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.756G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:p.Trp252Cys",
        "hgvsWellDefined": "ENSP00000445429.1:p.Trp252Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.1324G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544182.1:n.1298G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.729G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:p.Trp243Cys",
        "hgvsWellDefined": "ENSP00000438424.1:p.Trp243Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1611,
          "referenceAllele": "G",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.1611G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580054575",
      "coordinates": [
        {
          "allele": "C",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.849G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Trp283Cys",
        "hgvsWellDefined": "NP_000181.2:p.Trp283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333231",
      "coordinates": [
        {
          "allele": "C",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Trp266Cys",
        "hgvsWellDefined": "NP_001019553.1:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454827",
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.729G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Trp243Cys",
        "hgvsWellDefined": "NP_001245137.1:p.Trp243Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826455065",
      "coordinates": [
        {
          "allele": "C",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.678G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Trp226Cys",
        "hgvsWellDefined": "NP_001245138.1:p.Trp226Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1084,
          "referenceAllele": "G",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Trp266Cys",
        "hgvsWellDefined": "XP_005271588.1:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1062,
          "referenceAllele": "G",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Trp266Cys",
        "hgvsWellDefined": "XP_005271589.1:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "referenceAllele": "G",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.795G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Trp265Cys",
        "hgvsWellDefined": "XP_005271590.1:p.Trp265Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.684G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Trp228Cys",
        "hgvsWellDefined": "XP_011541098.1:p.Trp228Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580054575",
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.849G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Trp283Cys",
        "hgvsWellDefined": "NP_000181.2:p.Trp283Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.849G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.849G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Trp283Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Trp283Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333231",
      "coordinates": [
        {
          "allele": "C",
          "end": 908,
          "referenceAllele": "G",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Trp266Cys",
        "hgvsWellDefined": "NP_001019553.1:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.795G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Trp265Cys",
        "hgvsWellDefined": "XP_005271590.1:p.Trp265Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.798G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Trp266Cys",
        "hgvsWellDefined": "XP_016873118.1:p.Trp266Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.675G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Trp225Cys",
        "hgvsWellDefined": "XP_024304228.1:p.Trp225Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454827",
      "coordinates": [
        {
          "allele": "C",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.729G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Trp243Cys",
        "hgvsWellDefined": "NP_001245137.1:p.Trp243Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826455065",
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.678G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Trp226Cys",
        "hgvsWellDefined": "NP_001245138.1:p.Trp226Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}