{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382888156",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.77G>T (p.Arg26Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=639775[alleleid]",
        "alleleId": 639775,
        "preferredName": "NM_000190.4(HMBS):c.77G>T (p.Arg26Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/665873",
        "RCV": [
          "RCV000824246"
        ],
        "variationId": 665873
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118959008G>T?assembly=hg19",
        "id": "chr11:g.118959008G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119088298G>T?assembly=hg38",
        "id": "chr11:g.119088298G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204103",
        "rs": 118204103
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 119088298,
          "referenceAllele": "G",
          "start": 119088297
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119088298G>T",
        "CM000673.2:g.119088298G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118959008,
          "referenceAllele": "G",
          "start": 118959007
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118959008G>T",
        "CM000673.1:g.118959008G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 118464218,
          "referenceAllele": "G",
          "start": 118464217
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118464218G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8422,
          "referenceAllele": "G",
          "start": 8421
        }
      ],
      "hgvs": [
        "NG_008093.1:g.8422G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 623,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.-78-337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:n.-78-337G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.1033G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.672-337G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Arg26Leu",
        "hgvsWellDefined": "ENSP00000392041.3:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 36,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.2:n.37-337G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "G",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.6:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.2:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000438726.2:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.6:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Arg26Leu",
        "hgvsWellDefined": "ENSP00000445599.1:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000491061.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 71,
          "referenceAllele": "G",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.71G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:p.Arg24Leu",
        "hgvsWellDefined": "ENSP00000498044.1:p.Arg24Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000497255.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648488.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498079.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000498079.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.294G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68,
          "endIntronDirection": "-",
          "endIntronOffset": 801,
          "referenceAllele": "G",
          "start": 68,
          "startIntronDirection": "-",
          "startIntronOffset": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649868.1:c.34-802G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497548.1:n.34-802G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000496970.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 539,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.540-337G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Arg26Leu",
        "hgvsWellDefined": "ENSP00000498786.1:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.77G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.77G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg26Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg26Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Arg26Leu",
        "hgvsWellDefined": "ENSP00000278715.3:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000376584.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000392041.2:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535253.5:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442079.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000442079.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535793.5:c.34-337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439904.1:n.34-337G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536185.5:n.245G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "G",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.5:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.1:p.Arg26Leu",
        "hgvsWellDefined": "ENSP00000438726.1:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000444730.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000539986.5:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440092.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000440092.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.159-337G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542345.5:n.215G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:p.Arg9Leu",
        "hgvsWellDefined": "ENSP00000443058.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542822.5:c.168G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444817.1:p.Pro56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 137,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.34-337G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:n.34-337G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.312G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543821.5:n.223G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45,
          "referenceAllele": "G",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544360.5:n.45G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:p.Arg26Leu",
        "hgvsWellDefined": "ENSP00000438424.1:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545621.5:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444849.1:p.Arg26Leu",
        "hgvsWellDefined": "ENSP00000444849.1:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545901.5:n.230G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.136G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.5:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Arg26Leu",
        "hgvsWellDefined": "ENSP00000445599.1:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580060229",
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg26Leu",
        "hgvsWellDefined": "NP_000181.2:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333029",
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg9Leu",
        "hgvsWellDefined": "NP_001019553.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454732",
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg26Leu",
        "hgvsWellDefined": "NP_001245137.1:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983872",
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg9Leu",
        "hgvsWellDefined": "NP_001245138.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Arg9Leu",
        "hgvsWellDefined": "XP_005271588.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 290,
          "referenceAllele": "G",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Arg9Leu",
        "hgvsWellDefined": "XP_005271589.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.34-337G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:n.34-337G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "endIntronDirection": "+",
          "endIntronOffset": 220,
          "referenceAllele": "G",
          "start": 576,
          "startIntronDirection": "+",
          "startIntronOffset": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.-79+220G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:n.-79+220G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580060229",
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Arg26Leu",
        "hgvsWellDefined": "NP_000181.2:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.77G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.77G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Arg26Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Arg26Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333029",
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Arg9Leu",
        "hgvsWellDefined": "NP_001019553.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 196,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.34-337G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:n.34-337G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Arg9Leu",
        "hgvsWellDefined": "XP_016873118.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "endIntronDirection": "-",
          "endIntronOffset": 336,
          "referenceAllele": "G",
          "start": 203,
          "startIntronDirection": "-",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.34-337G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:n.34-337G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454732",
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Arg26Leu",
        "hgvsWellDefined": "NP_001245137.1:p.Arg26Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983872",
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Arg9Leu",
        "hgvsWellDefined": "NP_001245138.1:p.Arg9Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}