{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA016698",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.1149G>A (p.Glu383=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77677[alleleid]",
        "alleleId": 77677,
        "preferredName": "NM_170707.4(LMNA):c.1149G>A (p.Glu383=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66780",
        "RCV": [
          "RCV000057240",
          "RCV000293812",
          "RCV000298159",
          "RCV000327855",
          "RCV000259414",
          "RCV000263024",
          "RCV000377531",
          "RCV000384768",
          "RCV000536971",
          "RCV000259097",
          "RCV000289312",
          "RCV000324542",
          "RCV000355460",
          "RCV000619516",
          "RCV000776145",
          "RCV001093854",
          "RCV001098597"
        ],
        "variationId": 66780
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-156105904-G-A",
        "id": "1-156105904-G-A",
        "variant": "1:156105904 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156105904G>A?assembly=hg19",
        "id": "chr1:g.156105904G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156136113G>A?assembly=hg38",
        "id": "chr1:g.156136113G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267607603",
        "rs": 267607603
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156105904-G-A?dataset=gnomad_r2_1",
        "id": "1-156105904-G-A",
        "variant": "1:156105904 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156136113-G-A?dataset=gnomad_r3",
        "id": "1-156136113-G-A",
        "variant": "1:156136113 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156136113-G-A?dataset=gnomad_r4",
        "id": "1-156136113-G-A",
        "variant": "1:156136113 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156136113,
          "referenceAllele": "G",
          "start": 156136112
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156136113G>A",
        "CM000663.2:g.156136113G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 156105904,
          "referenceAllele": "G",
          "start": 156105903
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156105904G>A",
        "CM000663.1:g.156105904G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 154372528,
          "referenceAllele": "G",
          "start": 154372527
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154372528G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58541,
          "referenceAllele": "G",
          "start": 58540
        }
      ],
      "hgvs": [
        "NG_008692.2:g.58541G>A",
        "LRG_254:g.58541G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "referenceAllele": "G",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Glu197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.3:n.381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1364,
          "referenceAllele": "G",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1364,
          "referenceAllele": "G",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "G",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1149G>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1149G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Glu383="
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Glu383="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.1524G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.*499G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:n.*499G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1547,
          "referenceAllele": "G",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*948G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*948G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "referenceAllele": "G",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.842G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*949G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*949G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*620G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*620G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "referenceAllele": "G",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.*160G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:n.*160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1368,
          "referenceAllele": "G",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.1524G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "referenceAllele": "G",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.*160G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:n.*160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1524G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1990,
          "referenceAllele": "G",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "referenceAllele": "G",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.*160G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:n.*160G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1149G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1149G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Glu383="
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Glu383="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.906G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Glu302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368298.2:n.413G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS266891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1361,
          "referenceAllele": "G",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1790,
          "referenceAllele": "G",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.813G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Glu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 972,
          "referenceAllele": "G",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.852G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Glu284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.5:n.534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000498722.2:n.381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "G",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000508500.1:c.27G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424977.1:p.Glu9="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443459",
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "referenceAllele": "G",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.813G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Glu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657853",
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.906G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Glu302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659117",
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660375",
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603665",
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.1149G>A",
        "LRG_254t1:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327450",
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830329574",
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "G",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.813G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Glu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.525G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Glu175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.1438G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.525G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:p.Glu175="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "referenceAllele": "G",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.1436G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830327450",
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.1149G>A"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.1149G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Glu383="
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Glu383="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826443459",
      "coordinates": [
        {
          "allele": "A",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.813G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Glu271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826660375",
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657853",
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "referenceAllele": "G",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.906G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Glu302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659117",
      "coordinates": [
        {
          "allele": "A",
          "end": 1795,
          "referenceAllele": "G",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603665",
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.1149G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.1149G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Glu383="
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Glu383="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830329574",
      "coordinates": [
        {
          "allele": "A",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.1149G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Glu383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}