{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363206289",
  "communityStandardTitle": [
    "NM_000410.4(HFE):c.314T>G (p.Ile105Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2984833[alleleid]",
        "alleleId": 2984833,
        "preferredName": "NM_000410.4(HFE):c.314T>G (p.Ile105Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2819902",
        "RCV": [
          "RCV003751882"
        ],
        "variationId": 2819902
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.26091306T>G?assembly=hg19",
        "id": "chr6:g.26091306T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.26091078T>G?assembly=hg38",
        "id": "chr6:g.26091078T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28934596",
        "rs": 28934596
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 26091078,
          "referenceAllele": "T",
          "start": 26091077
        }
      ],
      "hgvs": [
        "NC_000006.12:g.26091078T>G",
        "CM000668.2:g.26091078T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 26091306,
          "referenceAllele": "T",
          "start": 26091305
        }
      ],
      "hgvs": [
        "NC_000006.11:g.26091306T>G",
        "CM000668.1:g.26091306T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 26199285,
          "referenceAllele": "T",
          "start": 26199284
        }
      ],
      "hgvs": [
        "NC_000006.10:g.26199285T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8798,
          "referenceAllele": "T",
          "start": 8797
        }
      ],
      "hgvs": [
        "NG_008720.2:g.8798T>G",
        "LRG_748:g.8798T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001178"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "T",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000485729.2:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417534.2:p.Ile105Ser",
        "hgvsWellDefined": "ENSP00000417534.2:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 43,
          "referenceAllele": "A",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004757",
      "geneNCBI_id": 8347,
      "geneSymbol": "H2BC4",
      "hgvs": [
        "ENST00000707188.1:c.391-44A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516775.1:n.391-44A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914499"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000357618.10:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417404.1:p.Ile105Ser",
        "hgvsWellDefined": "ENSP00000417404.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748965",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357618.10:c.314T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000410.4:c.314T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417404.1:p.Ile105Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000401.1:p.Ile105Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 316,
          "referenceAllele": "T",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000309234.10:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311698.6:p.Ile105Ser",
        "hgvsWellDefined": "ENSP00000311698.6:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000317896.11:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313776.7:p.Ile105Ser",
        "hgvsWellDefined": "ENSP00000313776.7:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000336625.12:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337819.8:p.Ile105Ser",
        "hgvsWellDefined": "ENSP00000337819.8:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 235,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000349999.8:c.77-236T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259699.6:n.77-236T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 2040,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000352392.8:c.77-2041T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315936.4:n.77-2041T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 1606,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000353147.9:c.77-1607T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312342.5:n.77-1607T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000357618.9:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417404.1:p.Ile105Ser",
        "hgvsWellDefined": "ENSP00000417404.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "T",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000397022.7:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380217.3:p.Ile82Ser",
        "hgvsWellDefined": "ENSP00000380217.3:p.Ile82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "T",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000461397.5:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420802.1:p.Ile105Ser",
        "hgvsWellDefined": "ENSP00000420802.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 363,
          "referenceAllele": "T",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000470149.5:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419725.1:p.Ile105Ser",
        "hgvsWellDefined": "ENSP00000419725.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000483782.1:n.436T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 357,
          "referenceAllele": "T",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000486147.1:n.357T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "endIntronDirection": "-",
          "endIntronOffset": 235,
          "referenceAllele": "T",
          "start": 112,
          "startIntronDirection": "-",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "ENST00000488199.5:c.77-236T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420559.1:n.77-236T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "endIntronDirection": "+",
          "endIntronOffset": 32695,
          "referenceAllele": "A",
          "start": 132,
          "startIntronDirection": "+",
          "startIntronOffset": 32694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004751",
      "geneNCBI_id": 3018,
      "geneSymbol": "H2BC3",
      "hgvs": [
        "ENST00000629531.1:c.132+32695A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486472.1:n.132+32695A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825163796",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_000410.3:c.314T>G",
        "LRG_748t1:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000401.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_000401.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826848276",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001300749.1:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287678.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_001287678.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024812"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830269791",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139003.2:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620572.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_620572.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830269984",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139004.2:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620573.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_620573.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830270173",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "T",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139006.2:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620575.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_620575.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 235,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139007.2:c.77-236T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620576.1:n.77-236T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 235,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139008.2:c.77-236T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620577.1:n.77-236T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742006414",
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "T",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139009.2:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620578.1:p.Ile82Ser",
        "hgvsWellDefined": "NP_620578.1:p.Ile82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 1606,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139010.2:c.77-1607T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620579.1:n.77-1607T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 2040,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139011.2:c.77-2041T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620580.1:n.77-2041T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514543.1:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512845.1:p.Ile105Ser",
        "hgvsWellDefined": "XP_011512845.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514544.1:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512846.1:p.Ile105Ser",
        "hgvsWellDefined": "XP_011512846.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XR_241893.2:n.436T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XM_011514543.3:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512845.1:p.Ile105Ser",
        "hgvsWellDefined": "XP_011512845.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "XR_241893.4:n.408T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826848276",
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001300749.2:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287678.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_001287678.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830269791",
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139003.3:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620572.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_620572.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830269984",
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139004.3:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620573.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_620573.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830270173",
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139006.3:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620575.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_620575.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 235,
          "referenceAllele": "T",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139007.3:c.77-236T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620576.1:n.77-236T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 235,
          "referenceAllele": "T",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139008.3:c.77-236T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620577.1:n.77-236T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742006414",
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "referenceAllele": "T",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139009.3:c.245T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620578.1:p.Ile82Ser",
        "hgvsWellDefined": "NP_620578.1:p.Ile82Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 1606,
          "referenceAllele": "T",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139010.3:c.77-1607T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620579.1:n.77-1607T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 2040,
          "referenceAllele": "T",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_139011.3:c.77-2041T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_620580.1:n.77-2041T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699822"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825163796",
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_000410.4:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000401.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_000401.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357618.10:c.314T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000410.4:c.314T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417404.1:p.Ile105Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000401.1:p.Ile105Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828939012",
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NM_001384164.1:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371093.1:p.Ile105Ser",
        "hgvsWellDefined": "NP_001371093.1:p.Ile105Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722677"
    }
  ],
  "type": "nucleotide"
}