{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140664900",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1444C= (p.Arg482=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/57920071",
        "rs": 57920071
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156136984,
          "referenceAllele": "C",
          "start": 156136983
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156136984C=",
        "CM000663.2:g.156136984C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156106775,
          "referenceAllele": "C",
          "start": 156106774
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156106775C=",
        "CM000663.1:g.156106775C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 154373399,
          "referenceAllele": "C",
          "start": 154373398
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154373399C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 59412,
          "referenceAllele": "C",
          "start": 59411
        }
      ],
      "hgvs": [
        "NG_008692.2:g.59412C=",
        "LRG_254:g.59412C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.886C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Arg296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000459904.2:n.692C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.3:n.676C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "C",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1727,
          "referenceAllele": "C",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1444C="
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1444C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Arg482="
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Arg482="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.1819C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1657,
          "referenceAllele": "C",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*794C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*794C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*1243C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*1243C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1932,
          "referenceAllele": "C",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.*6C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:n.*6C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.1137C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1563,
          "referenceAllele": "C",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*1244C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*1244C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*915C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*915C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1692,
          "referenceAllele": "C",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*455C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*455C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2303,
          "referenceAllele": "C",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.2303C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*547C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*547C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1819C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2285,
          "referenceAllele": "C",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*455C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*455C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1444C="
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1444C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Arg482="
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Arg482="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1560,
          "endIntronDirection": "-",
          "endIntronOffset": 206,
          "referenceAllele": "C",
          "start": 1560,
          "startIntronDirection": "-",
          "startIntronOffset": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.1312-207C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:n.1312-207C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.1201C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Arg401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368298.2:n.1192C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.1108C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Arg370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "referenceAllele": "C",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000459904.1:n.692C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.1147C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Arg383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.829C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.2:n.676C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000508500.1:c.322C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424977.1:p.Arg108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.1108C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Arg370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.1201C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Arg401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.1444C=",
        "LRG_254t1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063884423",
      "coordinates": [
        {
          "allele": "C",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089126497",
      "coordinates": [
        {
          "allele": "C",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "referenceAllele": "C",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.1108C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Arg370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1733C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.820C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Arg274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1731,
          "referenceAllele": "C",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1731C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063884423",
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1444C="
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1444C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Arg482="
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Arg482="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.1108C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Arg370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.1201C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Arg401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2090,
          "referenceAllele": "C",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1444C="
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1444C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Arg482="
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Arg482="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089126497",
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "C",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}