{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020283",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1699-8C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172490[alleleid]",
        "alleleId": 172490,
        "preferredName": "NM_170707.4(LMNA):c.1699-8C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163879",
        "RCV": [
          "RCV000150956",
          "RCV000769731",
          "RCV000876929",
          "RCV001775636",
          "RCV001173401"
        ],
        "variationId": 163879
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-156108271-C-G",
        "id": "1-156108271-C-G",
        "variant": "1:156108271 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156108271C>G?assembly=hg19",
        "id": "chr1:g.156108271C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156138480C>G?assembly=hg38",
        "id": "chr1:g.156138480C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727503137",
        "rs": 727503137
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156108271-C-G?dataset=gnomad_r2_1",
        "id": "1-156108271-C-G",
        "variant": "1:156108271 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156138480-C-G?dataset=gnomad_r3",
        "id": "1-156138480-C-G",
        "variant": "1:156138480 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156138480-C-G?dataset=gnomad_r4",
        "id": "1-156138480-C-G",
        "variant": "1:156138480 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156138480,
          "referenceAllele": "C",
          "start": 156138479
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156138480C>G",
        "CM000663.2:g.156138480C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156108271,
          "referenceAllele": "C",
          "start": 156108270
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156108271C>G",
        "CM000663.1:g.156108271C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154374895,
          "referenceAllele": "C",
          "start": 154374894
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154374895C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60908,
          "referenceAllele": "C",
          "start": 60907
        }
      ],
      "hgvs": [
        "NG_008692.2:g.60908C>G",
        "LRG_254:g.60908C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1449,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.1141-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:n.1141-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1822,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1609-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:n.1609-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1913,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 43,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683773.1:n.44-8C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2621,
          "referenceAllele": "C",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.*783C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:n.*783C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1981,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1981,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1906,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1906,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1699-8C>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1699-8C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:n.1699-8C>G"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:n.1699-8C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2894,
          "referenceAllele": "C",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.2894C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1911,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1911,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*1049-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*1049-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2096,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 2096,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*1498-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*1498-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2923,
          "referenceAllele": "C",
          "start": 2922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.*997C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:n.*997C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1817,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*1499-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*1499-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2073,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 2073,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1759,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1759,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*1170-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*1170-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1946,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*710-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*710-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1917,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3294,
          "referenceAllele": "C",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.3294C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2048,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 2048,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*802-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*802-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3231,
          "referenceAllele": "C",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.3231C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2449,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 2449,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1609-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:n.1609-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2693,
          "referenceAllele": "C",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*1446C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*1446C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1857,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1609-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:n.1609-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1895,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1895,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1910,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1406,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.1363-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:n.1363-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1521,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1521,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.1402-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:n.1402-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1904,
          "referenceAllele": "C",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.1904C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000506981.1:n.283-8C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 486,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000508500.1:c.487-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424977.1:n.487-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1449,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.1363-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:n.1363-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1947,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1947,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1857,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1609-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:n.1609-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1444,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.1363-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:n.1363-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1382,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.1075-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.1075-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1987,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1987,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1988-8C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1484,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.1075-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.1075-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1985,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1985,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1986-8C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1906,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1906,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1699-8C>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1699-8C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:n.1699-8C>G"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:n.1699-8C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1396,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.1363-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:n.1363-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1906,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1906,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1699-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:n.1699-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1816,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1609-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:n.1609-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}