{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA016923",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77695[alleleid]",
        "alleleId": 77695,
        "preferredName": "NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66798",
        "RCV": [
          "RCV000057261",
          "RCV000694118",
          "RCV000772169",
          "RCV002444514",
          "RCV003996501",
          "RCV002281901"
        ],
        "variationId": 66798
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-156106109-T-C",
        "id": "1-156106109-T-C",
        "variant": "1:156106109 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156106109T>C?assembly=hg19",
        "id": "chr1:g.156106109T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156136318T>C?assembly=hg38",
        "id": "chr1:g.156136318T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607564",
        "rs": 267607564
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156106109-T-C?dataset=gnomad_r2_1",
        "id": "1-156106109-T-C",
        "variant": "1:156106109 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156136318-T-C?dataset=gnomad_r3",
        "id": "1-156136318-T-C",
        "variant": "1:156136318 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156136318-T-C?dataset=gnomad_r4",
        "id": "1-156136318-T-C",
        "variant": "1:156136318 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156136318,
          "referenceAllele": "T",
          "start": 156136317
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156136318T>C",
        "CM000663.2:g.156136318T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156106109,
          "referenceAllele": "T",
          "start": 156106108
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156106109T>C",
        "CM000663.1:g.156106109T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 154372733,
          "referenceAllele": "T",
          "start": 154372732
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154372733T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58746,
          "referenceAllele": "T",
          "start": 58745
        }
      ],
      "hgvs": [
        "NG_008692.2:g.58746T>C",
        "LRG_254:g.58746T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1013,
          "referenceAllele": "T",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.704T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Leu235Pro",
        "hgvsWellDefined": "ENSP00000426535.3:p.Leu235Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26,
          "referenceAllele": "T",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000459904.2:n.26T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.3:n.494T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1476,
          "referenceAllele": "T",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000506904.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1477,
          "referenceAllele": "T",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000506771.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1477,
          "referenceAllele": "T",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000508220.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1545,
          "referenceAllele": "T",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000355292.6:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000357283.4:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1262T>C"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1262T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Leu421Pro"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Leu421Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "T",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.1637T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "referenceAllele": "T",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*612T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*612T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "T",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*1061T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*1061T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "T",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000502798.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "T",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.955T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1381,
          "referenceAllele": "T",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*1062T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*1062T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "T",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000501803.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "referenceAllele": "T",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*733T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*733T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "referenceAllele": "T",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*273T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*273T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1481,
          "referenceAllele": "T",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000502256.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "T",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.1637T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1612,
          "referenceAllele": "T",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*365T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*365T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "T",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1637T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "T",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000502091.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1520,
          "referenceAllele": "T",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*273T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*273T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000503633.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1262T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1262T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Leu421Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Leu421Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000292304.3:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000355292.5:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1121,
          "referenceAllele": "T",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Leu340Pro",
        "hgvsWellDefined": "ENSP00000357280.1:p.Leu340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "T",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368298.2:n.526T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1459,
          "referenceAllele": "T",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000357282.3:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1474,
          "referenceAllele": "T",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000357283.4:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1903,
          "referenceAllele": "T",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Leu421Pro",
        "hgvsWellDefined": "ENSP00000357284.2:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 970,
          "referenceAllele": "T",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.926T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Leu309Pro",
        "hgvsWellDefined": "ENSP00000395597.2:p.Leu309Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26,
          "referenceAllele": "T",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000459904.1:n.26T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.965T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Leu322Pro",
        "hgvsWellDefined": "ENSP00000421821.1:p.Leu322Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "referenceAllele": "T",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.647T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "T",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.2:n.494T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 140,
          "referenceAllele": "T",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000508500.1:c.140T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424977.1:p.Leu47Pro",
        "hgvsWellDefined": "ENSP00000424977.1:p.Leu47Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443578",
      "coordinates": [
        {
          "allele": "C",
          "end": 1013,
          "referenceAllele": "T",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.926T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Leu309Pro",
        "hgvsWellDefined": "NP_001244303.1:p.Leu309Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657940",
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "T",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Leu340Pro",
        "hgvsWellDefined": "NP_001269553.1:p.Leu340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1935,
          "referenceAllele": "T",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_001269554.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660460",
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_001269555.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217864",
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.1262T>C",
        "LRG_254t1:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_005563.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217865",
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_733821.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217866",
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "T",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_733822.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "T",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.926T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Leu309Pro",
        "hgvsWellDefined": "XP_011507835.1:p.Leu309Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 946,
          "referenceAllele": "T",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.638T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Leu213Pro",
        "hgvsWellDefined": "XP_011507836.1:p.Leu213Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1551,
          "referenceAllele": "T",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1551T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "T",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.638T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Leu213Pro",
        "hgvsWellDefined": "XP_011507836.1:p.Leu213Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1549,
          "referenceAllele": "T",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1549T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217865",
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_733821.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1262T>C"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1262T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Leu421Pro"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Leu421Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443578",
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "T",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.926T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Leu309Pro",
        "hgvsWellDefined": "NP_001244303.1:p.Leu309Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660460",
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_001269555.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657940",
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.1019T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Leu340Pro",
        "hgvsWellDefined": "NP_001269553.1:p.Leu340Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1908,
          "referenceAllele": "T",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_001269554.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217864",
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_005563.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1262T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1262T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Leu421Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Leu421Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA217866",
      "coordinates": [
        {
          "allele": "C",
          "end": 1470,
          "referenceAllele": "T",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1262T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Leu421Pro",
        "hgvsWellDefined": "NP_733822.1:p.Leu421Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}