{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363208588",
  "communityStandardTitle": [
    "NM_000410.4(HFE):c.848A>G (p.Gln283Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.26093144A>G?assembly=hg19",
        "id": "chr6:g.26093144A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.26092916A>G?assembly=hg38",
        "id": "chr6:g.26092916A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111033563",
        "rs": 111033563
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-26092916-A-G?dataset=gnomad_r4",
        "id": "6-26092916-A-G",
        "variant": "6:26092916 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 26092916,
          "referenceAllele": "A",
          "start": 26092915
        }
      ],
      "hgvs": [
        "NC_000006.12:g.26092916A>G",
        "CM000668.2:g.26092916A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 26093144,
          "referenceAllele": "A",
          "start": 26093143
        }
      ],
      "hgvs": [
        "NC_000006.11:g.26093144A>G",
        "CM000668.1:g.26093144A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 26201123,
          "referenceAllele": "A",
          "start": 26201122
        }
      ],
      "hgvs": [
        "NC_000006.10:g.26201123A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10636,
          "referenceAllele": "A",
          "start": 10635
        }
      ],
      "hgvs": [
        "NG_008720.2:g.10636A>G",
        "LRG_748:g.10636A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001178"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 858,
          "referenceAllele": "A",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000485729.2:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417534.2:p.Gln283Arg",
        "hgvsWellDefined": "ENSP00000417534.2:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 1881,
          "referenceAllele": "T",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004757",
      "geneNCBI_id": 8347,
      "geneSymbol": "H2BC4",
      "hgvs": [
        "ENST00000707188.1:c.391-1882T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516775.1:n.391-1882T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914499"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "A",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000357618.10:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417404.1:p.Gln283Arg",
        "hgvsWellDefined": "ENSP00000417404.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748965",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357618.10:c.848A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000410.4:c.848A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417404.1:p.Gln283Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000401.1:p.Gln283Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "referenceAllele": "A",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000309234.10:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311698.6:p.Gln283Arg",
        "hgvsWellDefined": "ENSP00000311698.6:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 732,
          "referenceAllele": "A",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000317896.11:c.572A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313776.7:p.Gln191Arg",
        "hgvsWellDefined": "ENSP00000313776.7:p.Gln191Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "A",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000336625.12:c.530A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337819.8:p.Gln177Arg",
        "hgvsWellDefined": "ENSP00000337819.8:p.Gln177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "A",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000349999.8:c.584A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259699.6:p.Gln195Arg",
        "hgvsWellDefined": "ENSP00000259699.6:p.Gln195Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 202,
          "referenceAllele": "A",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000352392.8:c.77-203A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315936.4:n.77-203A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000353147.9:c.308A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312342.5:p.Gln103Arg",
        "hgvsWellDefined": "ENSP00000312342.5:p.Gln103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 970,
          "referenceAllele": "A",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000357618.9:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417404.1:p.Gln283Arg",
        "hgvsWellDefined": "ENSP00000417404.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000397022.7:c.779A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380217.3:p.Gln260Arg",
        "hgvsWellDefined": "ENSP00000380217.3:p.Gln260Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000461397.5:c.806A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420802.1:p.Gln269Arg",
        "hgvsWellDefined": "ENSP00000420802.1:p.Gln269Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000470149.5:c.839A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419725.1:p.Gln280Arg",
        "hgvsWellDefined": "ENSP00000419725.1:p.Gln280Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "referenceAllele": "A",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000483782.1:n.1179A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "referenceAllele": "A",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000486147.1:n.691A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 578,
          "referenceAllele": "A",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000488199.5:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420559.1:p.Gln181Arg",
        "hgvsWellDefined": "ENSP00000420559.1:p.Gln181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "endIntronDirection": "+",
          "endIntronOffset": 30857,
          "referenceAllele": "T",
          "start": 132,
          "startIntronDirection": "+",
          "startIntronOffset": 30856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004751",
      "geneNCBI_id": 3018,
      "geneSymbol": "H2BC3",
      "hgvs": [
        "ENST00000629531.1:c.132+30857T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486472.1:n.132+30857T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144734",
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "A",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_000410.3:c.848A>G",
        "LRG_748t1:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000401.1:p.Gln283Arg",
        "hgvsWellDefined": "NP_000401.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "A",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001300749.1:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287678.1:p.Gln283Arg",
        "hgvsWellDefined": "NP_001287678.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139003.2:c.530A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620572.1:p.Gln177Arg",
        "hgvsWellDefined": "NP_620572.1:p.Gln177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 732,
          "referenceAllele": "A",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139004.2:c.572A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620573.1:p.Gln191Arg",
        "hgvsWellDefined": "NP_620573.1:p.Gln191Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 966,
          "referenceAllele": "A",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139006.2:c.806A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620575.1:p.Gln269Arg",
        "hgvsWellDefined": "NP_620575.1:p.Gln269Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "A",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139007.2:c.584A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620576.1:p.Gln195Arg",
        "hgvsWellDefined": "NP_620576.1:p.Gln195Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 702,
          "referenceAllele": "A",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139008.2:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620577.1:p.Gln181Arg",
        "hgvsWellDefined": "NP_620577.1:p.Gln181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "A",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139009.2:c.779A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620578.1:p.Gln260Arg",
        "hgvsWellDefined": "NP_620578.1:p.Gln260Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139010.2:c.308A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620579.1:p.Gln103Arg",
        "hgvsWellDefined": "NP_620579.1:p.Gln103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 202,
          "referenceAllele": "A",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139011.2:c.77-203A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620580.1:n.77-203A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 970,
          "referenceAllele": "A",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514543.1:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512845.1:p.Gln283Arg",
        "hgvsWellDefined": "XP_011512845.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "referenceAllele": "A",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514544.1:c.839A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512846.1:p.Gln280Arg",
        "hgvsWellDefined": "XP_011512846.1:p.Gln280Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 970,
          "referenceAllele": "A",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XR_241893.2:n.970A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "referenceAllele": "A",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514543.3:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512845.1:p.Gln283Arg",
        "hgvsWellDefined": "XP_011512845.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "referenceAllele": "A",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XR_241893.4:n.942A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "A",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001300749.2:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287678.1:p.Gln283Arg",
        "hgvsWellDefined": "NP_001287678.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "A",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139003.3:c.530A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620572.1:p.Gln177Arg",
        "hgvsWellDefined": "NP_620572.1:p.Gln177Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "A",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139004.3:c.572A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620573.1:p.Gln191Arg",
        "hgvsWellDefined": "NP_620573.1:p.Gln191Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 818,
          "referenceAllele": "A",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139006.3:c.806A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620575.1:p.Gln269Arg",
        "hgvsWellDefined": "NP_620575.1:p.Gln269Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "A",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139007.3:c.584A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620576.1:p.Gln195Arg",
        "hgvsWellDefined": "NP_620576.1:p.Gln195Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "A",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139008.3:c.542A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620577.1:p.Gln181Arg",
        "hgvsWellDefined": "NP_620577.1:p.Gln181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 791,
          "referenceAllele": "A",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139009.3:c.779A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620578.1:p.Gln260Arg",
        "hgvsWellDefined": "NP_620578.1:p.Gln260Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "referenceAllele": "A",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139010.3:c.308A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620579.1:p.Gln103Arg",
        "hgvsWellDefined": "NP_620579.1:p.Gln103Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 202,
          "referenceAllele": "A",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139011.3:c.77-203A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620580.1:n.77-203A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699822"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072144734",
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "A",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_000410.4:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000401.1:p.Gln283Arg",
        "hgvsWellDefined": "NP_000401.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357618.10:c.848A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000410.4:c.848A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417404.1:p.Gln283Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000401.1:p.Gln283Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "A",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001384164.1:c.848A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371093.1:p.Gln283Arg",
        "hgvsWellDefined": "NP_001371093.1:p.Gln283Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722677"
    }
  ],
  "type": "nucleotide"
}