{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA016587",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1098G>A (p.Lys366=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77671[alleleid]",
        "alleleId": 77671,
        "preferredName": "NM_170707.4(LMNA):c.1098G>A (p.Lys366=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66774",
        "RCV": [
          "RCV000057231",
          "RCV000500477",
          "RCV001178173",
          "RCV001437348",
          "RCV002453371",
          "RCV003996496"
        ],
        "variationId": 66774
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-156105853-G-A",
        "id": "1-156105853-G-A",
        "variant": "1:156105853 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156105853G>A?assembly=hg19",
        "id": "chr1:g.156105853G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156136062G>A?assembly=hg38",
        "id": "chr1:g.156136062G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/57901307",
        "rs": 57901307
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156105853-G-A?dataset=gnomad_r2_1",
        "id": "1-156105853-G-A",
        "variant": "1:156105853 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156136062-G-A?dataset=gnomad_r3",
        "id": "1-156136062-G-A",
        "variant": "1:156136062 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156136062-G-A?dataset=gnomad_r4",
        "id": "1-156136062-G-A",
        "variant": "1:156136062 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156136062,
          "referenceAllele": "G",
          "start": 156136061
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156136062G>A",
        "CM000663.2:g.156136062G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156105853,
          "referenceAllele": "G",
          "start": 156105852
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156105853G>A",
        "CM000663.1:g.156105853G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 154372477,
          "referenceAllele": "G",
          "start": 154372476
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154372477G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58490,
          "referenceAllele": "G",
          "start": 58489
        }
      ],
      "hgvs": [
        "NG_008692.2:g.58490G>A",
        "LRG_254:g.58490G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.540G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Lys180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.3:n.330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1312,
          "referenceAllele": "G",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1313,
          "referenceAllele": "G",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1313,
          "referenceAllele": "G",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1098G>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1098G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Lys366="
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Lys366="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.1473G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*448G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*448G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*897G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.791G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1217,
          "referenceAllele": "G",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*898G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*898G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*569G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*569G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*109G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*109G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.1473G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1356,
          "referenceAllele": "G",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*109G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*109G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "G",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1473G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1356,
          "referenceAllele": "G",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*109G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*109G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1098G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1098G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Lys366="
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Lys366="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.855G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Lys285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368298.2:n.362G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1310,
          "referenceAllele": "G",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "referenceAllele": "G",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.762G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Lys254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "referenceAllele": "G",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.801G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Lys267="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.483G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.2:n.330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443402",
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.762G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Lys254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657812",
      "coordinates": [
        {
          "allele": "A",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.855G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Lys285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659073",
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "G",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660333",
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603591",
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.1098G>A",
        "LRG_254t1:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327341",
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830329549",
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "G",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.762G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Lys254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Lys158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1387G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.474G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Lys158="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1385G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327341",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1098G>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1098G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Lys366="
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Lys366="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443402",
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.762G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Lys254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660333",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657812",
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.855G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Lys285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659073",
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603591",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1098G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1098G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Lys366="
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Lys366="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830329549",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1098G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Lys366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}