{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342815036",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.370G>A (p.Glu124Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1320031[alleleid]",
        "alleleId": 1320031,
        "preferredName": "NM_170707.4(LMNA):c.370G>A (p.Glu124Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1329344",
        "RCV": [
          "RCV001799387",
          "RCV003319227"
        ],
        "variationId": 1329344
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156100421G>A?assembly=hg19",
        "id": "chr1:g.156100421G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156130630G>A?assembly=hg38",
        "id": "chr1:g.156130630G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2102865393",
        "rs": 2102865393
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156130630,
          "referenceAllele": "G",
          "start": 156130629
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156130630G>A",
        "CM000663.2:g.156130630G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156100421,
          "referenceAllele": "G",
          "start": 156100420
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156100421G>A",
        "CM000663.1:g.156100421G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 154367045,
          "referenceAllele": "G",
          "start": 154367044
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154367045G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53058,
          "referenceAllele": "G",
          "start": 53057
        }
      ],
      "hgvs": [
        "NG_008692.2:g.53058G>A",
        "LRG_254:g.53058G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.-189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:n.-189G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000506904.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000506771.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000508220.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "G",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000355292.6:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000357283.4:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.370G>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.370G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Glu124Lys"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Glu124Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.6:c.-295G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.2:n.-295G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000502261.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*169G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*169G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000502798.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "referenceAllele": "G",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.63G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*170G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000501803.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 574,
          "endIntronDirection": "-",
          "endIntronOffset": 3772,
          "referenceAllele": "G",
          "start": 574,
          "startIntronDirection": "-",
          "startIntronOffset": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.357-3773G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.357-3773G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000501670.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000502256.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000502468.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000502091.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000501648.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000503633.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.370G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.370G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Glu124Lys"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Glu124Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000292304.3:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000355292.5:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "referenceAllele": "G",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Glu43Lys",
        "hgvsWellDefined": "ENSP00000357280.1:p.Glu43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000357282.3:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000357283.4:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Glu124Lys",
        "hgvsWellDefined": "ENSP00000357284.2:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78,
          "referenceAllele": "G",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.34G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Glu12Lys",
        "hgvsWellDefined": "ENSP00000395597.2:p.Glu12Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000469565.6:n.404G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 44,
          "referenceAllele": "G",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000470199.2:n.357-45G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "referenceAllele": "G",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Glu25Lys",
        "hgvsWellDefined": "ENSP00000421821.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 268,
          "referenceAllele": "G",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000502357.5:n.268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000502751.5:n.342G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.5:c.121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.1:p.Glu41Lys",
        "hgvsWellDefined": "ENSP00000426535.1:p.Glu41Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "referenceAllele": "G",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000515459.5:c.*44G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424518.1:n.*44G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442676",
      "coordinates": [
        {
          "allele": "A",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.34G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Glu12Lys",
        "hgvsWellDefined": "NP_001244303.1:p.Glu12Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573069252",
      "coordinates": [
        {
          "allele": "A",
          "end": 301,
          "referenceAllele": "G",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Glu43Lys",
        "hgvsWellDefined": "NP_001269553.1:p.Glu43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658561",
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_001269554.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659822",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_001269555.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603027",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.370G>A",
        "LRG_254t1:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_005563.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830326382",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_733821.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830328965",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_733822.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116,
          "referenceAllele": "G",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.34G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Glu12Lys",
        "hgvsWellDefined": "XP_011507835.1:p.Glu12Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14,
          "referenceAllele": "G",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.-295G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-295G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.619G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 116,
          "referenceAllele": "G",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.-295G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-295G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830326382",
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_733821.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.370G>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.370G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Glu124Lys"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Glu124Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442676",
      "coordinates": [
        {
          "allele": "A",
          "end": 68,
          "referenceAllele": "G",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.34G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Glu12Lys",
        "hgvsWellDefined": "NP_001244303.1:p.Glu12Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659822",
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_001269555.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573069252",
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.127G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Glu43Lys",
        "hgvsWellDefined": "NP_001269553.1:p.Glu43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658561",
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_001269554.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603027",
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_005563.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.370G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.370G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Glu124Lys"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Glu124Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830328965",
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Glu124Lys",
        "hgvsWellDefined": "NP_733822.1:p.Glu124Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}