{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374332493",
  "communityStandardTitle": [
    "NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=900765[alleleid]",
        "alleleId": 900765,
        "preferredName": "NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/913951",
        "RCV": [
          "RCV001167832",
          "RCV001167833",
          "RCV002365819",
          "RCV002559606"
        ],
        "variationId": 913951
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.108370116G>A?assembly=hg19",
        "id": "chr9:g.108370116G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.105607835G>A?assembly=hg38",
        "id": "chr9:g.105607835G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1293245717",
        "rs": 1293245717
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-108370116-G-A?dataset=gnomad_r2_1",
        "id": "9-108370116-G-A",
        "variant": "9:108370116 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-105607835-G-A?dataset=gnomad_r4",
        "id": "9-105607835-G-A",
        "variant": "9:105607835 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 105607835,
          "referenceAllele": "G",
          "start": 105607834
        }
      ],
      "hgvs": [
        "NC_000009.12:g.105607835G>A",
        "CM000671.2:g.105607835G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 108370116,
          "referenceAllele": "G",
          "start": 108370115
        }
      ],
      "hgvs": [
        "NC_000009.11:g.108370116G>A",
        "CM000671.1:g.108370116G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 107409937,
          "referenceAllele": "G",
          "start": 107409936
        }
      ],
      "hgvs": [
        "NC_000009.10:g.107409937G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54706,
          "referenceAllele": "G",
          "start": 54705
        }
      ],
      "hgvs": [
        "NG_008754.1:g.54706G>A",
        "LRG_434:g.54706G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001201"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000357998.10:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350687.6:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000350687.6:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749015",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357998.10:c.664G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001079802.2:c.664G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350687.6:p.Val222Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001073270.1:p.Val222Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000374705.5:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363837.5:n.675G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000602661.6:c.*272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473540.2:n.*272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000642177.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495864.1:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000495864.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000642537.1:c.*526G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495945.1:n.*526G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000642644.1:c.*787G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494674.1:n.*787G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000642952.1:c.689G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493886.1:n.689G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000645933.1:c.*662G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495852.1:n.*662G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000674563.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502153.1:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000502153.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000674633.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502164.1:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000502164.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000675232.1:c.*799G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502043.1:n.*799G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000675443.1:c.*272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502643.1:n.*272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000675668.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502113.1:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000502113.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000675695.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502460.1:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000502460.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2263,
          "referenceAllele": "G",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000675736.1:c.*272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502809.1:n.*272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1831,
          "referenceAllele": "G",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000676011.1:n.1831G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000676192.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502158.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000676310.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501585.1:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000501585.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000676371.1:c.*471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501556.1:n.*471G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000223528.6:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223528.2:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000223528.2:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "referenceAllele": "G",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000357998.9:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350687.5:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000350687.5:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000374705.4:c.595G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363837.4:p.Val199Ile",
        "hgvsWellDefined": "ENSP00000363837.4:p.Val199Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000448551.6:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399140.2:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000399140.2:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000602526.1:c.*702G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473347.1:n.*702G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "ENST00000602661.5:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473540.1:p.Val222Ile",
        "hgvsWellDefined": "ENSP00000473540.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825458952",
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001079802.1:c.664G>A",
        "LRG_434t1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073270.1:p.Val222Ile",
        "hgvsWellDefined": "NP_001073270.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010087"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826231035",
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001198963.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185892.1:p.Val222Ile",
        "hgvsWellDefined": "NP_001185892.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829653474",
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_006731.2:c.664G>A",
        "LRG_434t2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006722.2:p.Val222Ile",
        "hgvsWellDefined": "NP_006722.2:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_006717014.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717077.1:p.Val222Ile",
        "hgvsWellDefined": "XP_006717077.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518368.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516670.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516670.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518369.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516671.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516671.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518370.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516672.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516672.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "referenceAllele": "G",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518371.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516673.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516673.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "referenceAllele": "G",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518372.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516674.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516674.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 972,
          "referenceAllele": "G",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518373.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516675.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516675.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518374.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516676.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516676.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518375.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516677.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516677.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518376.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516678.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516678.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518377.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516679.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516679.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518378.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516680.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516680.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518379.1:c.595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516681.1:p.Val199Ile",
        "hgvsWellDefined": "XP_011516681.1:p.Val199Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518380.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516682.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516682.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518381.1:c.478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516683.1:p.Val160Ile",
        "hgvsWellDefined": "XP_011516683.1:p.Val160Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518382.1:c.478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516684.1:p.Val160Ile",
        "hgvsWellDefined": "XP_011516684.1:p.Val160Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "G",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518383.1:c.478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516685.1:p.Val160Ile",
        "hgvsWellDefined": "XP_011516685.1:p.Val160Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518384.1:c.478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516686.1:p.Val160Ile",
        "hgvsWellDefined": "XP_011516686.1:p.Val160Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518385.1:c.478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516687.1:p.Val160Ile",
        "hgvsWellDefined": "XP_011516687.1:p.Val160Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518386.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516688.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516688.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518387.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516689.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516689.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518388.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516690.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516690.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518389.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516691.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516691.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518390.1:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516692.1:p.Val90Ile",
        "hgvsWellDefined": "XP_011516692.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518391.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516693.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516693.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827611563",
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351496.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338425.1:p.Val222Ile",
        "hgvsWellDefined": "NP_001338425.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612009",
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351497.1:c.595G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338426.1:p.Val199Ile",
        "hgvsWellDefined": "NP_001338426.1:p.Val199Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612552",
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351498.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338427.1:p.Val222Ile",
        "hgvsWellDefined": "NP_001338427.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612855",
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351499.1:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338428.1:p.Val90Ile",
        "hgvsWellDefined": "NP_001338428.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827613226",
      "coordinates": [
        {
          "allele": "A",
          "end": 998,
          "referenceAllele": "G",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351500.1:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338429.1:p.Val90Ile",
        "hgvsWellDefined": "NP_001338429.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827613598",
      "coordinates": [
        {
          "allele": "A",
          "end": 906,
          "referenceAllele": "G",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351501.1:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338430.1:p.Val90Ile",
        "hgvsWellDefined": "NP_001338430.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139730579",
      "coordinates": [
        {
          "allele": "A",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351502.1:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338431.1:p.Val90Ile",
        "hgvsWellDefined": "NP_001338431.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147213.1:n.880G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147214.1:n.788G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518368.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516670.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516670.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518369.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516671.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516671.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518370.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516672.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516672.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518371.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516673.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516673.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518373.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516675.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516675.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518374.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516676.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516676.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518375.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516677.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516677.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 930,
          "referenceAllele": "G",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518376.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516678.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516678.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518378.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516680.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516680.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518379.2:c.595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516681.1:p.Val199Ile",
        "hgvsWellDefined": "XP_011516681.1:p.Val199Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518381.3:c.478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516683.1:p.Val160Ile",
        "hgvsWellDefined": "XP_011516683.1:p.Val160Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518387.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516689.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516689.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518390.2:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516692.1:p.Val90Ile",
        "hgvsWellDefined": "XP_011516692.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_011518391.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516693.1:p.Val222Ile",
        "hgvsWellDefined": "XP_011516693.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014462.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869951.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869951.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014463.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869952.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869952.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014464.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869953.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869953.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014465.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869954.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869954.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014467.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869956.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869956.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1170,
          "referenceAllele": "G",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014468.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869957.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869957.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014469.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869958.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869958.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014470.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869959.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869959.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014472.2:c.478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869961.1:p.Val160Ile",
        "hgvsWellDefined": "XP_016869961.1:p.Val160Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3030,
          "referenceAllele": "G",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014473.2:c.478G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869962.1:p.Val160Ile",
        "hgvsWellDefined": "XP_016869962.1:p.Val160Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XM_017014475.1:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869964.1:p.Val222Ile",
        "hgvsWellDefined": "XP_016869964.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746242.2:n.1028G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746243.2:n.1028G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746244.2:n.1028G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746245.1:n.878G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_001746248.1:n.1971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "XR_002956770.1:n.878G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825458952",
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001079802.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073270.1:p.Val222Ile",
        "hgvsWellDefined": "NP_001073270.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357998.10:c.664G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001079802.2:c.664G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350687.6:p.Val222Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001073270.1:p.Val222Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826231035",
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001198963.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185892.1:p.Val222Ile",
        "hgvsWellDefined": "NP_001185892.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827611563",
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351496.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338425.1:p.Val222Ile",
        "hgvsWellDefined": "NP_001338425.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612009",
      "coordinates": [
        {
          "allele": "A",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351497.2:c.595G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338426.1:p.Val199Ile",
        "hgvsWellDefined": "NP_001338426.1:p.Val199Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612552",
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351498.2:c.664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338427.1:p.Val222Ile",
        "hgvsWellDefined": "NP_001338427.1:p.Val222Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827612855",
      "coordinates": [
        {
          "allele": "A",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351499.2:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338428.1:p.Val90Ile",
        "hgvsWellDefined": "NP_001338428.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688851"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827613226",
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351500.2:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338429.1:p.Val90Ile",
        "hgvsWellDefined": "NP_001338429.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827613598",
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351501.2:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338430.1:p.Val90Ile",
        "hgvsWellDefined": "NP_001338430.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139730579",
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "G",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NM_001351502.2:c.268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338431.1:p.Val90Ile",
        "hgvsWellDefined": "NP_001338431.1:p.Val90Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147213.2:n.879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NR_147214.2:n.787G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704539"
    }
  ],
  "type": "nucleotide"
}