{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA016488",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77660[alleleid]",
        "alleleId": 77660,
        "preferredName": "NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66763",
        "RCV": [
          "RCV000057219",
          "RCV001854172",
          "RCV003343625"
        ],
        "variationId": 66763
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156105801G>T?assembly=hg19",
        "id": "chr1:g.156105801G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156136010G>T?assembly=hg38",
        "id": "chr1:g.156136010G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/58789393",
        "rs": 58789393
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 156136010,
          "referenceAllele": "G",
          "start": 156136009
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156136010G>T",
        "CM000663.2:g.156136010G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 156105801,
          "referenceAllele": "G",
          "start": 156105800
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156105801G>T",
        "CM000663.1:g.156105801G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 154372425,
          "referenceAllele": "G",
          "start": 154372424
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154372425G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58438,
          "referenceAllele": "G",
          "start": 58437
        }
      ],
      "hgvs": [
        "NG_008692.2:g.58438G>T",
        "LRG_254:g.58438G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.488G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Arg163Leu",
        "hgvsWellDefined": "ENSP00000426535.3:p.Arg163Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "G",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.3:n.278G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000506904.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000506771.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000508220.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000355292.6:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000357283.4:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1046G>T"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1046G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Arg349Leu"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Arg349Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.1421G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*396G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*396G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*845G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*845G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000502798.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.739G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*846G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*846G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000501803.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*517G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*517G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*57G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*57G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000502256.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.1421G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*57G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*57G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "G",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1421G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000502091.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*57G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*57G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000503633.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1046G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1046G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Arg349Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Arg349Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000292304.3:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000355292.5:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.803G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Arg268Leu",
        "hgvsWellDefined": "ENSP00000357280.1:p.Arg268Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368298.2:n.310G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000357282.3:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000357283.4:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Arg349Leu",
        "hgvsWellDefined": "ENSP00000357284.2:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.710G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Arg237Leu",
        "hgvsWellDefined": "ENSP00000395597.2:p.Arg237Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.749G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Arg250Leu",
        "hgvsWellDefined": "ENSP00000421821.1:p.Arg250Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.431G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "G",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.2:n.278G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443345",
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.710G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Arg237Leu",
        "hgvsWellDefined": "NP_001244303.1:p.Arg237Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657770",
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "G",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.803G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Arg268Leu",
        "hgvsWellDefined": "NP_001269553.1:p.Arg268Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659032",
      "coordinates": [
        {
          "allele": "T",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_001269554.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660291",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_001269555.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217694",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.1046G>T",
        "LRG_254t1:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_005563.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103455",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_733821.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217695",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_733822.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.710G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Arg237Leu",
        "hgvsWellDefined": "XP_011507835.1:p.Arg237Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 730,
          "referenceAllele": "G",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Arg141Leu",
        "hgvsWellDefined": "XP_011507836.1:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "G",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1335G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.422G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Arg141Leu",
        "hgvsWellDefined": "XP_011507836.1:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "referenceAllele": "G",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1333G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103455",
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_733821.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1046G>T"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1046G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Arg349Leu"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Arg349Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443345",
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.710G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Arg237Leu",
        "hgvsWellDefined": "NP_001244303.1:p.Arg237Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660291",
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_001269555.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657770",
      "coordinates": [
        {
          "allele": "T",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.803G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Arg268Leu",
        "hgvsWellDefined": "NP_001269553.1:p.Arg268Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659032",
      "coordinates": [
        {
          "allele": "T",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_001269554.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217694",
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_005563.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1046G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1046G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Arg349Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Arg349Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA217695",
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1046G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Arg349Leu",
        "hgvsWellDefined": "NP_733822.1:p.Arg349Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}