{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA016815",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77688[alleleid]",
        "alleleId": 77688,
        "preferredName": "NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66791",
        "RCV": [
          "RCV000057252",
          "RCV000557302",
          "RCV004545742"
        ],
        "variationId": 66791
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156084825A>G?assembly=hg19",
        "id": "chr1:g.156084825A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156115034A>G?assembly=hg38",
        "id": "chr1:g.156115034A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/57983345",
        "rs": 57983345
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156084825-A-G?dataset=gnomad_r2_1",
        "id": "1-156084825-A-G",
        "variant": "1:156084825 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156115034-A-G?dataset=gnomad_r4",
        "id": "1-156115034-A-G",
        "variant": "1:156115034 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156115034,
          "referenceAllele": "A",
          "start": 156115033
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156115034A>G",
        "CM000663.2:g.156115034A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156084825,
          "referenceAllele": "A",
          "start": 156084824
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156084825A>G",
        "CM000663.1:g.156084825A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154351449,
          "referenceAllele": "A",
          "start": 154351448
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154351449A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37462,
          "referenceAllele": "A",
          "start": 37461
        }
      ],
      "hgvs": [
        "NG_008692.2:g.37462A>G",
        "LRG_254:g.37462A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 330,
          "referenceAllele": "A",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000506904.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000506771.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000508220.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 399,
          "referenceAllele": "A",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000355292.6:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000357283.4:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.116A>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.116A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Asn39Ser"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Asn39Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.491A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000502261.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000501666.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000502798.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 33,
          "referenceAllele": "A",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.83+33A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.83+33A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000501803.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000501851.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000501670.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "A",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000502256.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.491A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000502468.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "A",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.491A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 957,
          "referenceAllele": "A",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000502091.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000501648.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000503633.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.116A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.116A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Asn39Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Asn39Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000292304.3:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000355292.5:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 313,
          "referenceAllele": "A",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000357282.3:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 328,
          "referenceAllele": "A",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000357283.4:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "A",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Asn39Ser",
        "hgvsWellDefined": "ENSP00000357284.2:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150,
          "referenceAllele": "A",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000469565.6:n.150A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000470199.2:n.324A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 272,
          "referenceAllele": "A",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000478063.2:n.272A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 328,
          "endIntronDirection": "-",
          "endIntronOffset": 15582,
          "referenceAllele": "A",
          "start": 328,
          "startIntronDirection": "-",
          "startIntronOffset": 15583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000502751.5:n.329-15583A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658338",
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "referenceAllele": "A",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_001269554.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659595",
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_001269555.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217830",
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.116A>G",
        "LRG_254t1:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_005563.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103758",
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_733821.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217831",
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_733822.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.365A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 363,
          "referenceAllele": "A",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.363A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103758",
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_733821.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.116A>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.116A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Asn39Ser"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Asn39Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659595",
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_001269555.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658338",
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "A",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_001269554.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA217830",
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_005563.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.116A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.116A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Asn39Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Asn39Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA217831",
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.116A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Asn39Ser",
        "hgvsWellDefined": "NP_733822.1:p.Asn39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}