{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA018076",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29546[alleleid]",
        "alleleId": 29546,
        "preferredName": "NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14507",
        "RCV": [
          "RCV000015601",
          "RCV000057403"
        ],
        "variationId": 14507
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156100470T>G?assembly=hg19",
        "id": "chr1:g.156100470T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156130679T>G?assembly=hg38",
        "id": "chr1:g.156130679T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/60652225",
        "rs": 60652225
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156130679,
          "referenceAllele": "T",
          "start": 156130678
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156130679T>G",
        "CM000663.2:g.156130679T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156100470,
          "referenceAllele": "T",
          "start": 156100469
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156100470T>G",
        "CM000663.1:g.156100470T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154367094,
          "referenceAllele": "T",
          "start": 154367093
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154367094T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 53107,
          "referenceAllele": "T",
          "start": 53106
        }
      ],
      "hgvs": [
        "NG_008692.2:g.53107T>G",
        "LRG_254:g.53107T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "T",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.-140T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:n.-140T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 633,
          "referenceAllele": "T",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000506904.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "T",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000506771.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "T",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000508220.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 702,
          "referenceAllele": "T",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000355292.6:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000357283.4:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.419T>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.419T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Leu140Arg"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Leu140Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.794T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "T",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.6:c.-246T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.2:n.-246T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "T",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000502261.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*218T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*218T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000502798.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112,
          "referenceAllele": "T",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.112T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "T",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*219T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*219T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000501803.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "endIntronDirection": "-",
          "endIntronOffset": 3723,
          "referenceAllele": "T",
          "start": 574,
          "startIntronDirection": "-",
          "startIntronOffset": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.357-3724T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.357-3724T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000501670.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "referenceAllele": "T",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000502256.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.794T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "T",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000502468.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 794,
          "referenceAllele": "T",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.794T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "T",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000502091.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "T",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000501648.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000503633.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.419T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.419T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Leu140Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Leu140Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000292304.3:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000355292.5:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278,
          "referenceAllele": "T",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.176T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Leu59Arg",
        "hgvsWellDefined": "ENSP00000357280.1:p.Leu59Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "T",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000357282.3:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "T",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000357283.4:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "T",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Leu140Arg",
        "hgvsWellDefined": "ENSP00000357284.2:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 127,
          "referenceAllele": "T",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.83T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Leu28Arg",
        "hgvsWellDefined": "ENSP00000395597.2:p.Leu28Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 453,
          "referenceAllele": "T",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000469565.6:n.453T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 361,
          "referenceAllele": "T",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000470199.2:n.361T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "T",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.122T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Leu41Arg",
        "hgvsWellDefined": "ENSP00000421821.1:p.Leu41Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "referenceAllele": "T",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000502357.5:n.317T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000502751.5:n.391T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "T",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.5:c.170T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.1:p.Leu57Arg",
        "hgvsWellDefined": "ENSP00000426535.1:p.Leu57Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "T",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000515459.5:c.*93T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424518.1:n.*93T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442730",
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "T",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.83T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Leu28Arg",
        "hgvsWellDefined": "NP_001244303.1:p.Leu28Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013547",
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "T",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.176T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Leu59Arg",
        "hgvsWellDefined": "NP_001269553.1:p.Leu59Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658593",
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "T",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_001269554.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659853",
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_001269555.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124062",
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.419T>G",
        "LRG_254t1:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_005563.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104111",
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_733821.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124063",
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_733822.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165,
          "referenceAllele": "T",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.83T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Leu28Arg",
        "hgvsWellDefined": "XP_011507835.1:p.Leu28Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63,
          "referenceAllele": "T",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.-246T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-246T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "T",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.668T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165,
          "referenceAllele": "T",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.-246T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-246T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "T",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.666T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104111",
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_733821.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.419T>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.419T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Leu140Arg"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Leu140Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442730",
      "coordinates": [
        {
          "allele": "G",
          "end": 117,
          "referenceAllele": "T",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.83T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Leu28Arg",
        "hgvsWellDefined": "NP_001244303.1:p.Leu28Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659853",
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_001269555.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013547",
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "referenceAllele": "T",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.176T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Leu59Arg",
        "hgvsWellDefined": "NP_001269553.1:p.Leu59Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658593",
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "T",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_001269554.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124062",
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_005563.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.419T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.419T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Leu140Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Leu140Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA124063",
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "T",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.419T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Leu140Arg",
        "hgvsWellDefined": "NP_733822.1:p.Leu140Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}