{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA017464",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57209[alleleid]",
        "alleleId": 57209,
        "preferredName": "NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48045",
        "RCV": [
          "RCV000041324",
          "RCV000057323",
          "RCV000245950",
          "RCV000474372",
          "RCV000678714",
          "RCV001250579",
          "RCV001330499",
          "RCV001181346",
          "RCV003996456"
        ],
        "variationId": 48045
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-156106982-G-A",
        "id": "1-156106982-G-A",
        "variant": "1:156106982 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156106982G>A?assembly=hg19",
        "id": "chr1:g.156106982G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156137191G>A?assembly=hg38",
        "id": "chr1:g.156137191G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201583907",
        "rs": 201583907
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156106982-G-A?dataset=gnomad_r2_1",
        "id": "1-156106982-G-A",
        "variant": "1:156106982 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156137191-G-A?dataset=gnomad_r3",
        "id": "1-156137191-G-A",
        "variant": "1:156137191 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156137191-G-A?dataset=gnomad_r4",
        "id": "1-156137191-G-A",
        "variant": "1:156137191 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156137191,
          "referenceAllele": "G",
          "start": 156137190
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156137191G>A",
        "CM000663.2:g.156137191G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156106982,
          "referenceAllele": "G",
          "start": 156106981
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156106982G>A",
        "CM000663.1:g.156106982G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 154373606,
          "referenceAllele": "G",
          "start": 154373605
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154373606G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59619,
          "referenceAllele": "G",
          "start": 59618
        }
      ],
      "hgvs": [
        "NG_008692.2:g.59619G>A",
        "LRG_254:g.59619G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.1009G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Gly337Arg",
        "hgvsWellDefined": "ENSP00000426535.3:p.Gly337Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000459904.2:n.815G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825105"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.3:n.799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1781,
          "referenceAllele": "G",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000506904.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1782,
          "referenceAllele": "G",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000506771.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1782,
          "referenceAllele": "G",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000508220.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1850,
          "referenceAllele": "G",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000355292.6:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000357283.4:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1567G>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1567G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Gly523Arg"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Gly523Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2026,
          "referenceAllele": "G",
          "start": 2025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.2026G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1780,
          "referenceAllele": "G",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*917G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*917G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*1366G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*1366G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2055,
          "referenceAllele": "G",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.*129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:n.*129G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.1260G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1686,
          "referenceAllele": "G",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*1367G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*1367G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000501803.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "referenceAllele": "G",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*1038G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*1038G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "referenceAllele": "G",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*578G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1786,
          "referenceAllele": "G",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000502256.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2426,
          "referenceAllele": "G",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.2426G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*670G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*670G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1942,
          "referenceAllele": "G",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1942G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2408,
          "referenceAllele": "G",
          "start": 2407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000502091.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*578G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*578G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000503633.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1567G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1567G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Gly523Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Gly523Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000292304.3:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.1312G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Gly438Arg",
        "hgvsWellDefined": "ENSP00000355292.5:p.Gly438Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "G",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Gly442Arg",
        "hgvsWellDefined": "ENSP00000357280.1:p.Gly442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "G",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368298.2:n.1399G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000357282.3:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1779,
          "referenceAllele": "G",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000357283.4:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Gly523Arg",
        "hgvsWellDefined": "ENSP00000357284.2:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.1231G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Gly411Arg",
        "hgvsWellDefined": "ENSP00000395597.2:p.Gly411Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000459904.1:n.815G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1390,
          "referenceAllele": "G",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.1270G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Gly424Arg",
        "hgvsWellDefined": "ENSP00000421821.1:p.Gly424Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.1036G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.2:n.799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000508500.1:c.445G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424977.1:p.Gly149Arg",
        "hgvsWellDefined": "ENSP00000424977.1:p.Gly149Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443850",
      "coordinates": [
        {
          "allele": "A",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.1231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Gly411Arg",
        "hgvsWellDefined": "NP_001244303.1:p.Gly411Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658138",
      "coordinates": [
        {
          "allele": "A",
          "end": 1498,
          "referenceAllele": "G",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Gly442Arg",
        "hgvsWellDefined": "NP_001269553.1:p.Gly442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659399",
      "coordinates": [
        {
          "allele": "A",
          "end": 2240,
          "referenceAllele": "G",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_001269554.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660659",
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_001269555.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA142451",
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.1567G>A",
        "LRG_254t1:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_005563.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103995",
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_733821.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA142452",
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_733822.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1313,
          "referenceAllele": "G",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.1231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Gly411Arg",
        "hgvsWellDefined": "XP_011507835.1:p.Gly411Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Gly315Arg",
        "hgvsWellDefined": "XP_011507836.1:p.Gly315Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1856G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1353,
          "referenceAllele": "G",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Gly315Arg",
        "hgvsWellDefined": "XP_011507836.1:p.Gly315Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "referenceAllele": "G",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1854G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103995",
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_733821.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1567G>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1567G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Gly523Arg"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Gly523Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443850",
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "G",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.1231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Gly411Arg",
        "hgvsWellDefined": "NP_001244303.1:p.Gly411Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660659",
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_001269555.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658138",
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Gly442Arg",
        "hgvsWellDefined": "NP_001269553.1:p.Gly442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659399",
      "coordinates": [
        {
          "allele": "A",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_001269554.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA142451",
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_005563.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1567G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1567G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Gly523Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Gly523Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA142452",
      "coordinates": [
        {
          "allele": "A",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1567G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Gly523Arg",
        "hgvsWellDefined": "NP_733822.1:p.Gly523Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}