{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2254345689",
  "communityStandardTitle": [
    "NM_001369369.1(FOXN1):c.763C= (p.Arg255=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894562",
        "rs": 104894562
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 28529157,
          "referenceAllele": "C",
          "start": 28529156
        }
      ],
      "hgvs": [
        "NC_000017.11:g.28529157C=",
        "CM000679.2:g.28529157C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 26856175,
          "referenceAllele": "C",
          "start": 26856174
        }
      ],
      "hgvs": [
        "NC_000017.10:g.26856175C=",
        "CM000679.1:g.26856175C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 23880302,
          "referenceAllele": "C",
          "start": 23880301
        }
      ],
      "hgvs": [
        "NC_000017.9:g.23880302C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10217,
          "referenceAllele": "C",
          "start": 10216
        }
      ],
      "hgvs": [
        "NG_007260.1:g.10217C=",
        "LRG_61:g.10217C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000508"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "ENST00000577936.2:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462159.2:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "referenceAllele": "C",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "ENST00000579795.6:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464645.1:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760862",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000579795.6:c.763C="
          },
          "RefSeq": {
            "hgvs": "NM_001369369.1:c.763C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000464645.1:p.Arg255="
          },
          "RefSeq": {
            "hgvs": "NP_001356298.1:p.Arg255="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "ENST00000226247.2:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000226247.2:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1733,
          "endIntronDirection": "-",
          "endIntronOffset": 73047,
          "referenceAllele": "G",
          "start": 1733,
          "startIntronDirection": "-",
          "startIntronOffset": 73048
        }
      ],
      "hgvs": [
        "ENST00000481916.6:c.*1196-73048G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436369.2:n.*1196-73048G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "ENST00000579795.5:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464645.1:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829458613",
      "coordinates": [
        {
          "allele": "C",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "NM_003593.2:c.763C=",
        "LRG_61t1:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003584.2:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 990,
          "referenceAllele": "C",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_005258046.3:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258103.1:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "referenceAllele": "C",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525354.1:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523656.1:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 942,
          "referenceAllele": "C",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525355.1:c.817C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523657.1:p.Arg273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525356.1:c.817C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523658.1:p.Arg273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1346,
          "referenceAllele": "C",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525357.1:c.799C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523659.1:p.Arg267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "C",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525358.1:c.766C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523660.1:p.Arg256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525359.1:c.766C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523661.1:p.Arg256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525360.1:c.766C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523662.1:p.Arg256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525361.1:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523663.1:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525362.1:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523664.1:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "referenceAllele": "C",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525363.1:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523665.1:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "referenceAllele": "C",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525364.1:c.298C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523666.1:p.Arg100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525365.1:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523667.1:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525366.1:c.220C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523668.1:p.Arg74="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525367.1:c.205C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523669.1:p.Arg69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525368.1:c.127C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523670.1:p.Arg43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525369.1:c.127C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523671.1:p.Arg43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525370.1:c.127C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523672.1:p.Arg43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525368.2:c.127C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523670.1:p.Arg43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525369.2:c.127C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523671.1:p.Arg43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_011525370.2:c.127C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523672.1:p.Arg43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_017025228.1:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880717.1:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_017025229.1:c.766C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880718.1:p.Arg256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_017025230.1:c.766C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880719.1:p.Arg256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "XM_017025231.1:c.766C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880720.1:p.Arg256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828322176",
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "referenceAllele": "C",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "NM_001369369.1:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356298.1:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691594",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000579795.6:c.763C="
          },
          "RefSeq": {
            "hgvs": "NM_001369369.1:c.763C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000464645.1:p.Arg255="
          },
          "RefSeq": {
            "hgvs": "NP_001356298.1:p.Arg255="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829458613",
      "coordinates": [
        {
          "allele": "C",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012765",
      "geneNCBI_id": 8456,
      "geneSymbol": "FOXN1",
      "hgvs": [
        "NM_003593.3:c.763C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003584.2:p.Arg255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727401"
    }
  ],
  "type": "nucleotide"
}