{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342817035",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=511002[alleleid]",
        "alleleId": 511002,
        "preferredName": "NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/520416",
        "RCV": [
          "RCV000623152"
        ],
        "variationId": 520416
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156104291T>G?assembly=hg19",
        "id": "chr1:g.156104291T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156134500T>G?assembly=hg38",
        "id": "chr1:g.156134500T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553265180",
        "rs": 1553265180
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156134500,
          "referenceAllele": "T",
          "start": 156134499
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156134500T>G",
        "CM000663.2:g.156134500T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156104291,
          "referenceAllele": "T",
          "start": 156104290
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156104291T>G",
        "CM000663.1:g.156104291T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154370915,
          "referenceAllele": "T",
          "start": 154370914
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154370915T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56928,
          "referenceAllele": "T",
          "start": 56927
        }
      ],
      "hgvs": [
        "NG_008692.2:g.56928T>G",
        "LRG_254:g.56928T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.53T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Leu18Arg",
        "hgvsWellDefined": "ENSP00000426535.3:p.Leu18Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 825,
          "referenceAllele": "T",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000506904.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "T",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000506771.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "T",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000508220.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000355292.6:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000357283.4:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.611T>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.611T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Leu204Arg"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Leu204Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.986T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.6:c.-54T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.2:n.-54T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "T",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000502261.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "T",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*410T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*410T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000502798.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 304,
          "referenceAllele": "T",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.304T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 730,
          "referenceAllele": "T",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*411T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*411T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000501803.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "T",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*82T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*82T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000501670.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "T",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000502256.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.986T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "T",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000502468.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.986T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1452,
          "referenceAllele": "T",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000502091.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "T",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000501648.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000503633.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.611T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.611T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Leu204Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Leu204Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000292304.3:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000355292.5:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "T",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.368T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Leu123Arg",
        "hgvsWellDefined": "ENSP00000357280.1:p.Leu123Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "T",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000357282.3:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "T",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000357283.4:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "referenceAllele": "T",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Leu204Arg",
        "hgvsWellDefined": "ENSP00000357284.2:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 319,
          "referenceAllele": "T",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.275T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Leu92Arg",
        "hgvsWellDefined": "ENSP00000395597.2:p.Leu92Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "referenceAllele": "T",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.314T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Leu105Arg",
        "hgvsWellDefined": "ENSP00000421821.1:p.Leu105Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000502357.5:n.509T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.5:c.362T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.1:p.Leu121Arg",
        "hgvsWellDefined": "ENSP00000426535.1:p.Leu121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 519,
          "referenceAllele": "T",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000515459.5:c.*285T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424518.1:n.*285T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982718",
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "T",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.275T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Leu92Arg",
        "hgvsWellDefined": "NP_001244303.1:p.Leu92Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657454",
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.368T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Leu123Arg",
        "hgvsWellDefined": "NP_001269553.1:p.Leu123Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658718",
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "referenceAllele": "T",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_001269554.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659976",
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_001269555.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603201",
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.611T>G",
        "LRG_254t1:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_005563.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830326697",
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_733821.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812982",
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_733822.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 357,
          "referenceAllele": "T",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.275T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Leu92Arg",
        "hgvsWellDefined": "XP_011507835.1:p.Leu92Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 255,
          "referenceAllele": "T",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.-54T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-54T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.860T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 357,
          "referenceAllele": "T",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.-54T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-54T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 858,
          "referenceAllele": "T",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.858T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830326697",
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_733821.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.611T>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.611T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Leu204Arg"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Leu204Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982718",
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "referenceAllele": "T",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.275T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Leu92Arg",
        "hgvsWellDefined": "NP_001244303.1:p.Leu92Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659976",
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_001269555.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657454",
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "T",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.368T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Leu123Arg",
        "hgvsWellDefined": "NP_001269553.1:p.Leu123Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658718",
      "coordinates": [
        {
          "allele": "G",
          "end": 1257,
          "referenceAllele": "T",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_001269554.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603201",
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_005563.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.611T>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.611T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Leu204Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Leu204Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812982",
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.611T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Leu204Arg",
        "hgvsWellDefined": "NP_733822.1:p.Leu204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}