{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382890512",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.275T>C (p.Leu92Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017390[alleleid]",
        "alleleId": 1017390,
        "preferredName": "NM_000190.4(HMBS):c.275T>C (p.Leu92Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1030657",
        "RCV": [
          "RCV001332261"
        ],
        "variationId": 1030657
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118960401T>C?assembly=hg19",
        "id": "chr11:g.118960401T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119089691T>C?assembly=hg38",
        "id": "chr11:g.119089691T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1946187914",
        "rs": 1946187914
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 119089691,
          "referenceAllele": "T",
          "start": 119089690
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119089691T>C",
        "CM000673.2:g.119089691T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118960401,
          "referenceAllele": "T",
          "start": 118960400
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118960401T>C",
        "CM000673.1:g.118960401T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118465611,
          "referenceAllele": "T",
          "start": 118465610
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118465611T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9815,
          "referenceAllele": "T",
          "start": 9814
        }
      ],
      "hgvs": [
        "NG_008093.1:g.9815T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "referenceAllele": "T",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.110T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:p.Leu37Pro",
        "hgvsWellDefined": "ENSP00000509288.1:p.Leu37Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "T",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686690.1:n.896T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2016,
          "referenceAllele": "T",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.2016T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 859,
          "referenceAllele": "T",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.859T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.257T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Leu86Pro",
        "hgvsWellDefined": "ENSP00000392041.3:p.Leu86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.2:n.224T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "T",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.6:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.2:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000438726.2:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 298,
          "referenceAllele": "T",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.6:c.267-299T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:n.267-299T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 411,
          "referenceAllele": "T",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000491061.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "T",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.269T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:p.Leu90Pro",
        "hgvsWellDefined": "ENSP00000498044.1:p.Leu90Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "referenceAllele": "T",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000497255.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648488.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498079.1:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000498079.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "T",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.492T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 165,
          "referenceAllele": "T",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649868.1:c.130T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497548.1:p.Trp44Arg",
        "hgvsWellDefined": "ENSP00000497548.1:p.Trp44Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 896,
          "referenceAllele": "T",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.206T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Leu69Pro",
        "hgvsWellDefined": "ENSP00000496970.1:p.Leu69Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "T",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1101T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "referenceAllele": "T",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000498786.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.275T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.275T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Leu92Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Leu92Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000278715.3:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000376584.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 487,
          "referenceAllele": "T",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000392041.2:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "T",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.1:n.191T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535253.5:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442079.1:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000442079.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "T",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535793.5:c.*170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439904.1:n.*170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536185.5:n.393T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "referenceAllele": "T",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.5:c.257T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.1:p.Leu86Pro",
        "hgvsWellDefined": "ENSP00000438726.1:p.Leu86Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "referenceAllele": "T",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000444730.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000539986.5:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440092.1:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000440092.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 720,
          "referenceAllele": "T",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.720T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 413,
          "referenceAllele": "T",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542345.5:n.413T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "referenceAllele": "T",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:p.Leu75Pro",
        "hgvsWellDefined": "ENSP00000443058.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "T",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542822.5:c.*211T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444817.1:n.*211T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "referenceAllele": "T",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.221T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:p.Leu74Pro",
        "hgvsWellDefined": "ENSP00000445429.1:p.Leu74Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.510T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "referenceAllele": "T",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543821.5:n.421T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 243,
          "referenceAllele": "T",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544360.5:n.243T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "T",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:p.Leu92Pro",
        "hgvsWellDefined": "ENSP00000438424.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "T",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545621.5:c.*170T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444849.1:n.*170T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.334T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 298,
          "referenceAllele": "T",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.5:c.267-299T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:n.267-299T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103691",
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "referenceAllele": "T",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Leu92Pro",
        "hgvsWellDefined": "NP_000181.2:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333077",
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Leu75Pro",
        "hgvsWellDefined": "NP_001019553.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499243191",
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "referenceAllele": "T",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_001245137.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454944",
      "coordinates": [
        {
          "allele": "C",
          "end": 523,
          "referenceAllele": "T",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Leu75Pro",
        "hgvsWellDefined": "NP_001245138.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Leu75Pro",
        "hgvsWellDefined": "XP_005271588.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "T",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Leu75Pro",
        "hgvsWellDefined": "XP_005271589.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "T",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.221T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Leu74Pro",
        "hgvsWellDefined": "XP_005271590.1:p.Leu74Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "T",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.110T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Leu37Pro",
        "hgvsWellDefined": "XP_011541098.1:p.Leu37Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103691",
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "referenceAllele": "T",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Leu92Pro",
        "hgvsWellDefined": "NP_000181.2:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.275T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.275T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Leu92Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Leu92Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333077",
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Leu75Pro",
        "hgvsWellDefined": "NP_001019553.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "referenceAllele": "T",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.221T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Leu74Pro",
        "hgvsWellDefined": "XP_005271590.1:p.Leu74Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Leu75Pro",
        "hgvsWellDefined": "XP_016873118.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.221T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Leu74Pro",
        "hgvsWellDefined": "XP_024304228.1:p.Leu74Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499243191",
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "referenceAllele": "T",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.275T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Leu92Pro",
        "hgvsWellDefined": "NP_001245137.1:p.Leu92Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454944",
      "coordinates": [
        {
          "allele": "C",
          "end": 519,
          "referenceAllele": "T",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.224T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Leu75Pro",
        "hgvsWellDefined": "NP_001245138.1:p.Leu75Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}