{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10525000",
  "communityStandardTitle": [
    "NM_001159699.2(FHL1):c.380-7T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=671033[alleleid]",
        "alleleId": 671033,
        "preferredName": "NM_001159699.2(FHL1):c.380-7T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/680386",
        "RCV": [
          "RCV000840166",
          "RCV001088691"
        ],
        "variationId": 680386
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-135289944-T-C",
        "id": "X-135289944-T-C",
        "variant": "X:135289944 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.135289944T>C?assembly=hg19",
        "id": "chrX:g.135289944T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.136207785T>C?assembly=hg38",
        "id": "chrX:g.136207785T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759571993",
        "rs": 759571993
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-135289944-T-C?dataset=gnomad_r2_1",
        "id": "X-135289944-T-C",
        "variant": "X:135289944 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-136207785-T-C?dataset=gnomad_r3",
        "id": "X-136207785-T-C",
        "variant": "X:136207785 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-136207785-T-C?dataset=gnomad_r4",
        "id": "X-136207785-T-C",
        "variant": "X:136207785 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 136207785,
          "referenceAllele": "T",
          "start": 136207784
        }
      ],
      "hgvs": [
        "NC_000023.11:g.136207785T>C",
        "CM000685.2:g.136207785T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 135289944,
          "referenceAllele": "T",
          "start": 135289943
        }
      ],
      "hgvs": [
        "NC_000023.10:g.135289944T>C",
        "CM000685.1:g.135289944T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 135117610,
          "referenceAllele": "T",
          "start": 135117609
        }
      ],
      "hgvs": [
        "NC_000023.9:g.135117610T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65386,
          "referenceAllele": "T",
          "start": 65385
        }
      ],
      "hgvs": [
        "NG_015895.1:g.65386T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002913"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000370683.6:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359717.1:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370683.6:c.380-7T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001159699.2:c.380-7T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359717.1:n.380-7T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001153171.1:n.380-7T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000394155.8:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377710.2:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394155.8:c.332-7T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001159702.3:c.332-7T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377710.2:n.332-7T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001153174.1:n.332-7T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 668,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000628919.3:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487147.2:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 792,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 792,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000651089.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498684.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 595,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000651929.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499016.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000652457.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498503.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 412,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000345434.7:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000071281.6:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000370674.3:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359708.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000370676.7:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359710.3:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 719,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000370683.5:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359717.1:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 595,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 595,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000370690.7:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359724.3:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 528,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 528,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000394153.6:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377709.2:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000394155.6:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377710.2:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000420362.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391779.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 505,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000434885.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413798.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000449474.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414604.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 505,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 505,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000452016.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408038.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 489,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000456445.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412642.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000458357.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389920.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 515,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000535737.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444815.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359902"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000539015.5:c.419-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437673.1:n.419-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000543669.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443333.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000618438.4:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477609.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000626004.1:n.36-7T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000627383.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487318.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 453,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000627578.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486436.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406914"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 384,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000628032.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487030.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000628443.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486631.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000628568.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486782.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 509,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 509,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000628919.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487147.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 742,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000629039.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486439.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000630084.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485897.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 381,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "ENST00000630684.2:n.382-7T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159699.1:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153171.1:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159700.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153172.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 467,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 467,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159701.1:c.419-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153173.1:n.419-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159702.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153174.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159703.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153175.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159704.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153176.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 528,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 528,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001167819.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161291.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001449.4:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001440.2:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 742,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NR_027621.1:n.743-7T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724743.2:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724806.1:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 542,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 542,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724744.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724807.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724745.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724808.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724746.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724809.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724747.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724810.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_011531316.1:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529618.1:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001330659.1:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317588.1:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724744.3:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724807.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724745.4:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724808.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724746.3:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724809.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_006724747.3:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724810.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_017029357.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884846.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 485,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_024452353.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308121.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_024452354.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308122.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "XM_024452355.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308123.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001449.5:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001440.2:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159699.2:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153171.1:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370683.6:c.380-7T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001159699.2:c.380-7T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359717.1:n.380-7T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001153171.1:n.380-7T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 610,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159700.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153172.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 432,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159701.2:c.419-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153173.1:n.419-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159702.3:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153174.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678089",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394155.8:c.332-7T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001159702.3:c.332-7T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377710.2:n.332-7T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001153174.1:n.332-7T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001159703.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153175.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001330659.2:c.380-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317588.1:n.380-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001369326.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356255.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 485,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 485,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001369327.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356256.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001369328.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356257.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001369329.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356258.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001369330.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356259.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 395,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001369331.1:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356260.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NM_001369327.2:c.332-7T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356256.1:n.332-7T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 742,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003702",
      "geneNCBI_id": 2273,
      "geneSymbol": "FHL1",
      "hgvs": [
        "NR_027621.2:n.743-7T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730231"
    }
  ],
  "type": "nucleotide"
}