{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA017607",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38730[alleleid]",
        "alleleId": 38730,
        "preferredName": "NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29775",
        "RCV": [
          "RCV000022641",
          "RCV000057342"
        ],
        "variationId": 29775
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156107457C>G?assembly=hg19",
        "id": "chr1:g.156107457C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156137666C>G?assembly=hg38",
        "id": "chr1:g.156137666C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/56984562",
        "rs": 56984562
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156137666,
          "referenceAllele": "C",
          "start": 156137665
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156137666C>G",
        "CM000663.2:g.156137666C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156107457,
          "referenceAllele": "C",
          "start": 156107456
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156107457C>G",
        "CM000663.1:g.156107457C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154374081,
          "referenceAllele": "C",
          "start": 154374080
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154374081C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60094,
          "referenceAllele": "C",
          "start": 60093
        }
      ],
      "hgvs": [
        "NG_008692.2:g.60094C>G",
        "LRG_254:g.60094C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.1063C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Arg355Gly",
        "hgvsWellDefined": "ENSP00000426535.3:p.Arg355Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.3:n.853C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "endIntronDirection": "+",
          "endIntronOffset": 434,
          "referenceAllele": "C",
          "start": 1822,
          "startIntronDirection": "+",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1608+434C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:n.1608+434C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000506771.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "C",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.1592C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Ala531Gly",
        "hgvsWellDefined": "ENSP00000508220.1:p.Ala531Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1904,
          "referenceAllele": "C",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000355292.6:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000357283.4:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1621C>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1621C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Arg541Gly"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Arg541Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2080,
          "referenceAllele": "C",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.2080C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "C",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*971C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*971C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2019,
          "referenceAllele": "C",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*1420C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*1420C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.*183C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:n.*183C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.1314C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1740,
          "referenceAllele": "C",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*1421C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*1421C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000501803.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1682,
          "referenceAllele": "C",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*1092C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*1092C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1869,
          "referenceAllele": "C",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*632C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*632C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000502256.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.2480C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1971,
          "referenceAllele": "C",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*724C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*724C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2417,
          "referenceAllele": "C",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.2417C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2449,
          "endIntronDirection": "+",
          "endIntronOffset": 434,
          "referenceAllele": "C",
          "start": 2449,
          "startIntronDirection": "+",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1608+434C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:n.1608+434C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "C",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*632C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*632C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000503633.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1621C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1621C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Arg541Gly"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Arg541Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "endIntronDirection": "+",
          "endIntronOffset": 434,
          "referenceAllele": "C",
          "start": 1857,
          "startIntronDirection": "+",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1608+434C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:n.1608+434C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.1366C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Arg456Gly",
        "hgvsWellDefined": "ENSP00000355292.5:p.Arg456Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1480,
          "referenceAllele": "C",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.1378C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Arg460Gly",
        "hgvsWellDefined": "ENSP00000357280.1:p.Arg460Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000357282.3:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1833,
          "referenceAllele": "C",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000357283.4:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2262,
          "referenceAllele": "C",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Arg541Gly",
        "hgvsWellDefined": "ENSP00000357284.2:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.1285C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Arg429Gly",
        "hgvsWellDefined": "ENSP00000395597.2:p.Arg429Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.1324C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Arg442Gly",
        "hgvsWellDefined": "ENSP00000421821.1:p.Arg442Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1090,
          "referenceAllele": "C",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.1090C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.2:n.853C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000506981.1:n.205C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "endIntronDirection": "+",
          "endIntronOffset": 434,
          "referenceAllele": "C",
          "start": 486,
          "startIntronDirection": "+",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000508500.1:c.486+434C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424977.1:n.486+434C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443903",
      "coordinates": [
        {
          "allele": "G",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.1285C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Arg429Gly",
        "hgvsWellDefined": "NP_001244303.1:p.Arg429Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658177",
      "coordinates": [
        {
          "allele": "G",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.1378C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Arg460Gly",
        "hgvsWellDefined": "NP_001269553.1:p.Arg460Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659437",
      "coordinates": [
        {
          "allele": "G",
          "end": 2294,
          "referenceAllele": "C",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Arg541Gly",
        "hgvsWellDefined": "NP_001269554.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660697",
      "coordinates": [
        {
          "allele": "G",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Arg541Gly",
        "hgvsWellDefined": "NP_001269555.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA218095",
      "coordinates": [
        {
          "allele": "G",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.1621C>G",
        "LRG_254t1:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Arg541Gly",
        "hgvsWellDefined": "NP_005563.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA218096",
      "coordinates": [
        {
          "allele": "G",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Arg541Gly",
        "hgvsWellDefined": "NP_733821.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "endIntronDirection": "+",
          "endIntronOffset": 434,
          "referenceAllele": "C",
          "start": 1857,
          "startIntronDirection": "+",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1608+434C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:n.1608+434C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.1285C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Arg429Gly",
        "hgvsWellDefined": "XP_011507835.1:p.Arg429Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.997C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Arg333Gly",
        "hgvsWellDefined": "XP_011507836.1:p.Arg333Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1910C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.997C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Arg333Gly",
        "hgvsWellDefined": "XP_011507836.1:p.Arg333Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1908,
          "referenceAllele": "C",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1908C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA218096",
      "coordinates": [
        {
          "allele": "G",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Arg541Gly",
        "hgvsWellDefined": "NP_733821.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1621C>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1621C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Arg541Gly"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Arg541Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443903",
      "coordinates": [
        {
          "allele": "G",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.1285C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Arg429Gly",
        "hgvsWellDefined": "NP_001244303.1:p.Arg429Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660697",
      "coordinates": [
        {
          "allele": "G",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Arg541Gly",
        "hgvsWellDefined": "NP_001269555.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658177",
      "coordinates": [
        {
          "allele": "G",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.1378C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Arg460Gly",
        "hgvsWellDefined": "NP_001269553.1:p.Arg460Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659437",
      "coordinates": [
        {
          "allele": "G",
          "end": 2267,
          "referenceAllele": "C",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Arg541Gly",
        "hgvsWellDefined": "NP_001269554.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA218095",
      "coordinates": [
        {
          "allele": "G",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1621C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Arg541Gly",
        "hgvsWellDefined": "NP_005563.1:p.Arg541Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1621C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1621C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Arg541Gly"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Arg541Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "endIntronDirection": "+",
          "endIntronOffset": 434,
          "referenceAllele": "C",
          "start": 1816,
          "startIntronDirection": "+",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1608+434C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:n.1608+434C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}