{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374378014",
  "communityStandardTitle": [
    "NM_001079802.2(FKTN):c.1178T>A (p.Leu393Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108397337T>A?assembly=hg19",
        "id": "chr9:g.108397337T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.105635056T>A?assembly=hg38",
        "id": "chr9:g.105635056T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 105635056,
          "referenceAllele": "T",
          "start": 105635055
        }
      ],
      "hgvs": [
        "NC_000009.12:g.105635056T>A",
        "CM000671.2:g.105635056T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 108397337,
          "referenceAllele": "T",
          "start": 108397336
        }
      ],
      "hgvs": [
        "NC_000009.11:g.108397337T>A",
        "CM000671.1:g.108397337T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 107437158,
          "referenceAllele": "T",
          "start": 107437157
        }
      ],
      "hgvs": [
        "NC_000009.10:g.107437158T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81927,
          "referenceAllele": "T",
          "start": 81926
        }
      ],
      "hgvs": [
        "NG_008754.1:g.81927T>A",
        "LRG_434:g.81927T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001201"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "referenceAllele": "T",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000357998.10:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350687.6:p.Leu393Gln",
        "hgvsWellDefined": "ENSP00000350687.6:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357998.10:c.1178T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001079802.2:c.1178T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350687.6:p.Leu393Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001073270.1:p.Leu393Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "T",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000602661.6:c.*786T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473540.2:n.*786T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1612,
          "referenceAllele": "T",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000642177.1:c.*393T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495864.1:n.*393T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "T",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000642537.1:c.*1446T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495945.1:n.*1446T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1518,
          "referenceAllele": "T",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000642952.1:c.1518T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493886.1:n.1518T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "T",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000644273.1:c.461T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "T",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000645933.1:c.*1491T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495852.1:n.*1491T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1558,
          "referenceAllele": "T",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000674563.1:c.*159T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502153.1:n.*159T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000674633.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502164.1:p.Leu393Gln",
        "hgvsWellDefined": "ENSP00000502164.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000675695.1:c.*159T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502460.1:n.*159T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2949,
          "referenceAllele": "T",
          "start": 2948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000675736.1:c.*958T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502809.1:n.*958T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "referenceAllele": "T",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000676011.1:n.2542T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "referenceAllele": "T",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000676310.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501585.1:p.Leu393Gln",
        "hgvsWellDefined": "ENSP00000501585.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000223528.6:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223528.2:p.Leu393Gln",
        "hgvsWellDefined": "ENSP00000223528.2:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1294,
          "referenceAllele": "T",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000357998.9:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350687.5:p.Leu393Gln",
        "hgvsWellDefined": "ENSP00000350687.5:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "T",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000448551.6:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399140.2:p.Leu393Gln",
        "hgvsWellDefined": "ENSP00000399140.2:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "referenceAllele": "T",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000457847.1:c.268T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "T",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000602526.1:c.*1216T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473347.1:n.*1216T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "T",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000602661.5:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473540.1:p.Leu393Gln",
        "hgvsWellDefined": "ENSP00000473540.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "T",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001079802.1:c.1178T>A",
        "LRG_434t1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073270.1:p.Leu393Gln",
        "hgvsWellDefined": "NP_001073270.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1394,
          "referenceAllele": "T",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001198963.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185892.1:p.Leu393Gln",
        "hgvsWellDefined": "NP_001185892.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_006731.2:c.1178T>A",
        "LRG_434t2:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006722.2:p.Leu393Gln",
        "hgvsWellDefined": "NP_006722.2:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_006717014.2:c.786T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717077.1:p.Pro262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1743,
          "referenceAllele": "T",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518378.1:c.1381T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516680.1:p.Cys461Ser",
        "hgvsWellDefined": "XP_011516680.1:p.Cys461Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1862,
          "referenceAllele": "T",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518380.1:c.*117T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516682.1:n.*117T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1571,
          "referenceAllele": "T",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518386.1:c.1209T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516688.1:p.Pro403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1148,
          "referenceAllele": "T",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518391.1:c.786T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516693.1:p.Pro262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1529,
          "referenceAllele": "T",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351496.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338425.1:p.Leu393Gln",
        "hgvsWellDefined": "NP_001338425.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "referenceAllele": "T",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351497.1:c.1109T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338426.1:p.Leu370Gln",
        "hgvsWellDefined": "NP_001338426.1:p.Leu370Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612732",
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "T",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351498.1:c.1209T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338427.1:p.Pro403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1647,
          "referenceAllele": "T",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351499.1:c.782T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338428.1:p.Leu261Gln",
        "hgvsWellDefined": "NP_001338428.1:p.Leu261Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "referenceAllele": "T",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351500.1:c.782T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338429.1:p.Leu261Gln",
        "hgvsWellDefined": "NP_001338429.1:p.Leu261Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351501.1:c.782T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338430.1:p.Leu261Gln",
        "hgvsWellDefined": "NP_001338430.1:p.Leu261Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1740,
          "referenceAllele": "T",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351502.1:c.782T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338431.1:p.Leu261Gln",
        "hgvsWellDefined": "NP_001338431.1:p.Leu261Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "referenceAllele": "T",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147213.1:n.1302T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "referenceAllele": "T",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147214.1:n.1474T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "T",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518378.2:c.1381T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516680.1:p.Cys461Ser",
        "hgvsWellDefined": "XP_011516680.1:p.Cys461Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "T",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518391.2:c.786T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516693.1:p.Pro262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "T",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014464.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869953.1:p.Leu393Gln",
        "hgvsWellDefined": "XP_016869953.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "T",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014465.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869954.1:p.Leu393Gln",
        "hgvsWellDefined": "XP_016869954.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "T",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014467.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869956.1:p.Leu393Gln",
        "hgvsWellDefined": "XP_016869956.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "T",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014468.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869957.1:p.Leu393Gln",
        "hgvsWellDefined": "XP_016869957.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "T",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014469.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869958.1:p.Leu393Gln",
        "hgvsWellDefined": "XP_016869958.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "T",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014470.1:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869959.1:p.Leu393Gln",
        "hgvsWellDefined": "XP_016869959.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "T",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746242.2:n.1745T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1864,
          "referenceAllele": "T",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746243.2:n.1864T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1573,
          "referenceAllele": "T",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746244.2:n.1573T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1564,
          "referenceAllele": "T",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746245.1:n.1564T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2657,
          "referenceAllele": "T",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746248.1:n.2657T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_002956770.1:n.1420T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "referenceAllele": "T",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001079802.2:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073270.1:p.Leu393Gln",
        "hgvsWellDefined": "NP_001073270.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357998.10:c.1178T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001079802.2:c.1178T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350687.6:p.Leu393Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001073270.1:p.Leu393Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "referenceAllele": "T",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001198963.2:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185892.1:p.Leu393Gln",
        "hgvsWellDefined": "NP_001185892.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "referenceAllele": "T",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351496.2:c.1178T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338425.1:p.Leu393Gln",
        "hgvsWellDefined": "NP_001338425.1:p.Leu393Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1626,
          "referenceAllele": "T",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351497.2:c.1109T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338426.1:p.Leu370Gln",
        "hgvsWellDefined": "NP_001338426.1:p.Leu370Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612732",
      "coordinates": [
        {
          "allele": "A",
          "end": 1332,
          "referenceAllele": "T",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351498.2:c.1209T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338427.1:p.Pro403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1646,
          "referenceAllele": "T",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351499.2:c.782T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338428.1:p.Leu261Gln",
        "hgvsWellDefined": "NP_001338428.1:p.Leu261Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351500.2:c.782T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338429.1:p.Leu261Gln",
        "hgvsWellDefined": "NP_001338429.1:p.Leu261Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "T",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351501.2:c.782T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338430.1:p.Leu261Gln",
        "hgvsWellDefined": "NP_001338430.1:p.Leu261Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "T",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351502.2:c.782T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338431.1:p.Leu261Gln",
        "hgvsWellDefined": "NP_001338431.1:p.Leu261Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "T",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147213.2:n.1301T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147214.2:n.1473T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704539"
    }
  ],
  "type": "nucleotide"
}