{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA018372",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76672[alleleid]",
        "alleleId": 76672,
        "preferredName": "NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65764",
        "RCV": [
          "RCV000056000",
          "RCV000057438",
          "RCV001382394",
          "RCV002362688"
        ],
        "variationId": 65764
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156104600T>C?assembly=hg19",
        "id": "chr1:g.156104600T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156134809T>C?assembly=hg38",
        "id": "chr1:g.156134809T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61295588",
        "rs": 61295588
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156134809,
          "referenceAllele": "T",
          "start": 156134808
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156134809T>C",
        "CM000663.2:g.156134809T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156104600,
          "referenceAllele": "T",
          "start": 156104599
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156104600T>C",
        "CM000663.1:g.156104600T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 154371224,
          "referenceAllele": "T",
          "start": 154371223
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154371224T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57237,
          "referenceAllele": "T",
          "start": 57236
        }
      ],
      "hgvs": [
        "NG_008692.2:g.57237T>C",
        "LRG_254:g.57237T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "T",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.86T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Leu29Pro",
        "hgvsWellDefined": "ENSP00000426535.3:p.Leu29Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 858,
          "referenceAllele": "T",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000506904.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 859,
          "referenceAllele": "T",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000506771.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 859,
          "referenceAllele": "T",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000508220.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "T",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000355292.6:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000357283.4:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.644T>C"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.644T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Leu215Pro"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Leu215Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "T",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.1019T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "T",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.6:c.-21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.2:n.-21T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "referenceAllele": "T",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.639T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:p.Ala213="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1042,
          "referenceAllele": "T",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*443T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*443T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "T",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000502798.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 337,
          "referenceAllele": "T",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.337T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "T",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*444T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*444T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "T",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000501803.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "referenceAllele": "T",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*115T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*115T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000501670.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "T",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000502256.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "T",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.1019T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000502468.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "T",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1019T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1485,
          "referenceAllele": "T",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000502091.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 862,
          "referenceAllele": "T",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000501648.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000503633.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.644T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.644T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Leu215Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Leu215Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000292304.3:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000355292.5:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "referenceAllele": "T",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.401T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Leu134Pro",
        "hgvsWellDefined": "ENSP00000357280.1:p.Leu134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000357282.3:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 856,
          "referenceAllele": "T",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000357283.4:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "referenceAllele": "T",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Leu215Pro",
        "hgvsWellDefined": "ENSP00000357284.2:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "T",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.308T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Leu103Pro",
        "hgvsWellDefined": "ENSP00000395597.2:p.Leu103Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 467,
          "referenceAllele": "T",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.347T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Leu116Pro",
        "hgvsWellDefined": "ENSP00000421821.1:p.Leu116Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "T",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.5:c.395T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.1:p.Leu132Pro",
        "hgvsWellDefined": "ENSP00000426535.1:p.Leu132Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 552,
          "referenceAllele": "T",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000515459.5:c.*318T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424518.1:n.*318T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5,
          "referenceAllele": "T",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000515824.1:n.5T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344959"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442941",
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "referenceAllele": "T",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.308T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Leu103Pro",
        "hgvsWellDefined": "NP_001244303.1:p.Leu103Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657477",
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "T",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.401T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Leu134Pro",
        "hgvsWellDefined": "NP_001269553.1:p.Leu134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658736",
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "T",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_001269554.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659999",
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_001269555.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA218385",
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.644T>C",
        "LRG_254t1:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_005563.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104124",
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_733821.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA218386",
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_733822.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "T",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.308T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Leu103Pro",
        "hgvsWellDefined": "XP_011507835.1:p.Leu103Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 288,
          "referenceAllele": "T",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.-21T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-21T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "T",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.893T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "referenceAllele": "T",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.-21T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-21T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "T",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.891T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104124",
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_733821.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.644T>C"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.644T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Leu215Pro"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Leu215Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442941",
      "coordinates": [
        {
          "allele": "C",
          "end": 342,
          "referenceAllele": "T",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.308T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Leu103Pro",
        "hgvsWellDefined": "NP_001244303.1:p.Leu103Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659999",
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_001269555.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657477",
      "coordinates": [
        {
          "allele": "C",
          "end": 522,
          "referenceAllele": "T",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.401T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Leu134Pro",
        "hgvsWellDefined": "NP_001269553.1:p.Leu134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658736",
      "coordinates": [
        {
          "allele": "C",
          "end": 1290,
          "referenceAllele": "T",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_001269554.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA218385",
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_005563.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.644T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.644T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Leu215Pro"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Leu215Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA218386",
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.644T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Leu215Pro",
        "hgvsWellDefined": "NP_733822.1:p.Leu215Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}