{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342817086",
  "communityStandardTitle": [
    "NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1801372[alleleid]",
        "alleleId": 1801372,
        "preferredName": "NM_170707.4(LMNA):c.633C>G (p.Tyr211Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1752940",
        "RCV": [
          "RCV002354035"
        ],
        "variationId": 1752940
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156104313C>G?assembly=hg19",
        "id": "chr1:g.156104313C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156134522C>G?assembly=hg38",
        "id": "chr1:g.156134522C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2527968714",
        "rs": 2527968714
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156134522,
          "referenceAllele": "C",
          "start": 156134521
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156134522C>G",
        "CM000663.2:g.156134522C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 156104313,
          "referenceAllele": "C",
          "start": 156104312
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156104313C>G",
        "CM000663.1:g.156104313C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 154370937,
          "referenceAllele": "C",
          "start": 154370936
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154370937C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56950,
          "referenceAllele": "C",
          "start": 56949
        }
      ],
      "hgvs": [
        "NG_008692.2:g.56950C>G",
        "LRG_254:g.56950C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.7:c.75C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.3:p.Tyr25Ter",
        "hgvsWellDefined": "ENSP00000426535.3:p.Tyr25_Met478delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000682650.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506904.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000506904.1:p.Tyr211_Met634delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000683032.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506771.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000506771.1:p.Tyr211_Met664delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000684195.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508220.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000508220.1:p.Tyr211_Gly540delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgSerGlyHisAlaGlnAlaGlyAlaLeuSerAspCysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.9:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.6:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000355292.6:p.Tyr211_Met664delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.9:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000357283.4:p.Tyr211_Met664delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750181",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.633C>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.633C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Tyr211Ter"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Tyr211Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000496738.6:n.1008C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.6:c.-32C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.2:n.-32C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674518.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502261.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000502261.1:p.Tyr211_Ala214delinsArgAlaAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674600.1:c.*432C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501666.1:n.*432C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000674720.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502798.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000502798.1:p.Tyr211_Cys516delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluValGlySerCysSerGlySerLysGlyIleGlnLeuHisGlnGlyGluSerGlyLysThrGluGlyTrpHisValGluArgGlyThrSerLeuProSerGluGlyGlyProGlyThrSerProTrpAlaIleGlyArgSerSerAlaArgMetGluMetIleProCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675431.1:n.326C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675455.1:c.*433C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501795.1:n.*433C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675667.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501803.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000501803.1:p.Tyr211_Val729delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnValSerCysLeuCysPheValSerLysSerCysArgArgValProGlyHisArgGlyValGlyArgGlyGlyLeuAlaGlyGlyArgAlaCysLeuLeuPheArgSerProGlyGluTrpGluProProProHisSerLeuSerProArgGlnProThrSerAlaSerCysProSerCysLeuSerProArgLeuGluGlyArgGlyArgAlaGlyValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675874.1:c.*104C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501851.1:n.*104C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675881.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501670.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000501670.1:p.Tyr211_Pro342delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnGlyProTrpGluLeuThrLysProSerHisProProSerAlaGlySerGlnGlyGlyGluAlaSerArgProGlyGlyLeuThrGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 852,
          "referenceAllele": "C",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675939.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502256.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000502256.1:p.Tyr211_Met664delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000675989.1:n.1008C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676208.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502468.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000502468.1:p.Tyr211_Pro342delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnGlyProTrpGluLeuThrLysProSerHisProProSerAlaGlySerGlnGlyGlyGluAlaSerArgProGlyGlyLeuThrGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676283.1:n.1008C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676385.2:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502091.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000502091.1:p.Tyr211_Met634delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "C",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000676434.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501648.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000501648.1:p.Tyr211_Pro342delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnGlyProTrpGluLeuThrLysProSerHisProProSerAlaGlySerGlnGlyGlyGluAlaSerArgProGlyGlyLeuThrGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000677389.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503633.1:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000503633.1:p.Tyr211_Arg572delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.633C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.633C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Tyr211Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Tyr211Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000347559.6:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292304.3:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000292304.3:p.Tyr211_Met634delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000361308.8:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355292.5:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000355292.5:p.Tyr211_Arg487delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368297.5:c.390C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357280.1:p.Tyr130Ter",
        "hgvsWellDefined": "ENSP00000357280.1:p.Tyr130_Arg491delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368299.7:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357282.3:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000357282.3:p.Tyr211_Met614delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368300.8:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357283.4:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000357283.4:p.Tyr211_Met664delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1274,
          "referenceAllele": "C",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000368301.6:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357284.2:p.Tyr211Ter",
        "hgvsWellDefined": "ENSP00000357284.2:p.Tyr211_Arg572delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000448611.6:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395597.2:p.Tyr99Ter",
        "hgvsWellDefined": "ENSP00000395597.2:p.Tyr99_Pro574delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000473598.6:c.336C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421821.1:p.Tyr112Ter",
        "hgvsWellDefined": "ENSP00000421821.1:p.Tyr112_Met565delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000502357.5:n.531C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000504687.5:c.384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426535.1:p.Tyr128Ter",
        "hgvsWellDefined": "ENSP00000426535.1:p.Tyr128_Lys182del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "ENST00000515459.5:c.*307C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424518.1:n.*307C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442934",
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.2:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Tyr99Ter",
        "hgvsWellDefined": "NP_001244303.1:p.Tyr99_Pro574delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657472",
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.1:c.390C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Tyr130Ter",
        "hgvsWellDefined": "NP_001269553.1:p.Tyr130_Arg491delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658730",
      "coordinates": [
        {
          "allele": "G",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_001269554.1:p.Tyr211_Arg572delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659993",
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_001269555.1:p.Tyr211_Met614delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603216",
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.3:c.633C>G",
        "LRG_254t1:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_005563.1:p.Tyr211_Arg572delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030662"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830326724",
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.3:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_733821.1:p.Tyr211_Met664delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042563"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830329259",
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.3:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_733822.1:p.Tyr211_Met634delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509533.1:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507835.1:p.Tyr99Ter",
        "hgvsWellDefined": "XP_011507835.1:p.Tyr99_Met552delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.1:c.-32C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-32C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.1:n.882C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XM_011509534.2:c.-32C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507836.1:n.-32C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "referenceAllele": "C",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "XR_921781.2:n.880C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830326724",
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170707.4:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733821.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_733821.1:p.Tyr211_Met664delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368300.9:c.633C>G"
          },
          "RefSeq": {
            "hgvs": "NM_170707.4:c.633C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357283.4:p.Tyr211Ter"
          },
          "RefSeq": {
            "hgvs": "NP_733821.1:p.Tyr211Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442934",
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001257374.3:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244303.1:p.Tyr99Ter",
        "hgvsWellDefined": "NP_001244303.1:p.Tyr99_Pro574delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleIleGlnGluMetGlyMetArgTrpGluValGluGluGlyArgArgLysValSerLeuSerCysLeuProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826659993",
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282626.2:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269555.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_001269555.1:p.Tyr211_Met614delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826657472",
      "coordinates": [
        {
          "allele": "G",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282624.2:c.390C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269553.1:p.Tyr130Ter",
        "hgvsWellDefined": "NP_001269553.1:p.Tyr130_Arg491delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826658730",
      "coordinates": [
        {
          "allele": "G",
          "end": 1279,
          "referenceAllele": "C",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_001282625.2:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269554.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_001269554.1:p.Tyr211_Arg572delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829603216",
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_005572.4:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005563.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_005563.1:p.Tyr211_Arg572delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGluValAlaMetArgLysLeuValArgSerValThrValValGluAspAspGluAspGluAspGlyAspAspLeuLeuHisHisHisHisValSerGlySerArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000677389.1:c.633C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005572.4:c.633C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000503633.1:p.Tyr211Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005563.1:p.Tyr211Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830329259",
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006636",
      "geneNCBI_id": 4000,
      "geneSymbol": "LMNA",
      "hgvs": [
        "NM_170708.4:c.633C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733822.1:p.Tyr211Ter",
        "hgvsWellDefined": "NP_733822.1:p.Tyr211_Met634delinsSerGluGluLeuArgGluThrLysArgArgHisGluThrArgLeuValGluIleAspAsnGlyLysGlnArgGluPheGluSerArgLeuAlaAspAlaLeuGlnGluLeuArgAlaGlnHisGluAspGlnValGluGlnTyrLysLysGluLeuGluLysThrTyrSerAlaLysLeuAspAsnAlaArgGlnSerAlaGluArgAsnSerAsnLeuValGlyAlaAlaHisGluGluLeuGlnGlnSerArgIleArgIleAspSerLeuSerAlaGlnLeuSerGlnLeuGlnLysGlnLeuAlaAlaLysGluAlaLysLeuArgAspLeuGluAspSerLeuAlaArgGluArgAspThrSerArgArgLeuLeuAlaGluLysGluArgGluMetAlaGluMetArgAlaArgMetGlnGlnGlnLeuAspGluTyrGlnGluLeuLeuAspIleLysLeuAlaLeuAspMetGluIleHisAlaTyrArgLysLeuLeuGluGlyGluGluGluArgLeuArgLeuSerProSerProThrSerGlnArgSerArgGlyArgAlaSerSerHisSerSerGlnThrGlnGlyGlyGlySerValThrLysLysArgLysLeuGluSerThrGluSerArgSerSerPheSerGlnHisAlaArgThrSerGlyArgValAlaValGluGluValAspGluGluGlyLysPheValArgLeuArgAsnLysSerAsnGluAspGlnSerMetGlyAsnTrpGlnIleLysArgGlnAsnGlyAspAspProLeuLeuThrTyrArgPheProProLysPheThrLeuLysAlaGlyGlnValValThrIleTrpAlaAlaGlyAlaGlyAlaThrHisSerProProThrAspLeuValTrpLysAlaGlnAsnThrTrpGlyCysGlyAsnSerLeuArgThrAlaLeuIleAsnSerThrGlyGluGlySerHisCysSerSerSerGlyAspProAlaGluTyrAsnLeuArgSerArgThrValLeuCysGlyThrCysGlyGlnProAlaAspLysAlaSerAlaSerGlySerGlyAlaGlnValGlyGlyProIleSerSerGlySerSerAlaSerSerValThrValThrArgSerTyrArgSerValGlyGlySerGlyGlyGlySerPheGlyAspAsnLeuValThrArgSerTyrLeuLeuGlyAsnSerSerProArgThrGlnSerProGlnAsnCysSerIleMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729502"
    }
  ],
  "type": "nucleotide"
}