{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342823236",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1540T>A (p.Trp514Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156106955T>A?assembly=hg19",
        "id": "chr1:g.156106955T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156137164T>A?assembly=hg38",
        "id": "chr1:g.156137164T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156137164,
          "referenceAllele": "T",
          "start": 156137163
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156137164T>A",
        "CM000663.2:g.156137164T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156106955,
          "referenceAllele": "T",
          "start": 156106954
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156106955T>A",
        "CM000663.1:g.156106955T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 154373579,
          "referenceAllele": "T",
          "start": 154373578
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154373579T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59592,
          "referenceAllele": "T",
          "start": 59591
        }
      ],
      "hgvs": [
        "NG_008692.2:g.59592T>A",
        "LRG_254:g.59592T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1291,
          "referenceAllele": "T",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.982T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Trp328Arg",
        "hgvsWellDefined": "ENSP00000426535.3:p.Trp328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "T",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000459904.2:n.788T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825105"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "T",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.3:n.772T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1754,
          "referenceAllele": "T",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000506904.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "referenceAllele": "T",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000506771.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "referenceAllele": "T",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000508220.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "referenceAllele": "T",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000355292.6:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "T",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000357283.4:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1540T>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1540T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Trp514Arg"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Trp514Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1999,
          "referenceAllele": "T",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.1999T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1753,
          "referenceAllele": "T",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*890T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*890T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1938,
          "referenceAllele": "T",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*1339T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*1339T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2028,
          "referenceAllele": "T",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.*102T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:n.*102T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.1233T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "T",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*1340T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*1340T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1915,
          "referenceAllele": "T",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000501803.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1601,
          "referenceAllele": "T",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*1011T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*1011T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1788,
          "referenceAllele": "T",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*551T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*551T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1759,
          "referenceAllele": "T",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000502256.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2399,
          "referenceAllele": "T",
          "start": 2398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.2399T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "T",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*643T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*643T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1915,
          "referenceAllele": "T",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1915T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "referenceAllele": "T",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000502091.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "referenceAllele": "T",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*551T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*551T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "T",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000503633.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1540T>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1540T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Trp514Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Trp514Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000292304.3:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1560,
          "endIntronDirection": "-",
          "endIntronOffset": 26,
          "referenceAllele": "T",
          "start": 1560,
          "startIntronDirection": "-",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.1312-27T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:n.1312-27T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.1297T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Trp433Arg",
        "hgvsWellDefined": "ENSP00000357280.1:p.Trp433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368298.2:n.1372T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1737,
          "referenceAllele": "T",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000357282.3:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1752,
          "referenceAllele": "T",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000357283.4:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2181,
          "referenceAllele": "T",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Trp514Arg",
        "hgvsWellDefined": "ENSP00000357284.2:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "T",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.1204T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Trp402Arg",
        "hgvsWellDefined": "ENSP00000395597.2:p.Trp402Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "T",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000459904.1:n.788T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "T",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.1243T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Trp415Arg",
        "hgvsWellDefined": "ENSP00000421821.1:p.Trp415Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "T",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.1009T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "T",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.2:n.772T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 418,
          "referenceAllele": "T",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000508500.1:c.418T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424977.1:p.Trp140Arg",
        "hgvsWellDefined": "ENSP00000424977.1:p.Trp140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443821",
      "coordinates": [
        {
          "allele": "A",
          "end": 1291,
          "referenceAllele": "T",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.1204T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Trp402Arg",
        "hgvsWellDefined": "NP_001244303.1:p.Trp402Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658120",
      "coordinates": [
        {
          "allele": "A",
          "end": 1471,
          "referenceAllele": "T",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.1297T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Trp433Arg",
        "hgvsWellDefined": "NP_001269553.1:p.Trp433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659381",
      "coordinates": [
        {
          "allele": "A",
          "end": 2213,
          "referenceAllele": "T",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_001269554.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660641",
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_001269555.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829604043",
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.1540T>A",
        "LRG_254t1:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_005563.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830328097",
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_733821.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645457863",
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_733822.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1286,
          "referenceAllele": "T",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.1204T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Trp402Arg",
        "hgvsWellDefined": "XP_011507835.1:p.Trp402Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.916T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Trp306Arg",
        "hgvsWellDefined": "XP_011507836.1:p.Trp306Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1829,
          "referenceAllele": "T",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1829T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1326,
          "referenceAllele": "T",
          "start": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.916T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Trp306Arg",
        "hgvsWellDefined": "XP_011507836.1:p.Trp306Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "T",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1827T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830328097",
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "T",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_733821.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1540T>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1540T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Trp514Arg"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Trp514Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443821",
      "coordinates": [
        {
          "allele": "A",
          "end": 1238,
          "referenceAllele": "T",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.1204T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Trp402Arg",
        "hgvsWellDefined": "NP_001244303.1:p.Trp402Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660641",
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "T",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_001269555.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658120",
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.1297T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Trp433Arg",
        "hgvsWellDefined": "NP_001269553.1:p.Trp433Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659381",
      "coordinates": [
        {
          "allele": "A",
          "end": 2186,
          "referenceAllele": "T",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_001269554.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829604043",
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "T",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_005563.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1540T>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1540T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Trp514Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Trp514Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645457863",
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "T",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1540T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Trp514Arg",
        "hgvsWellDefined": "NP_733822.1:p.Trp514Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}