{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4927030",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5512553",
        "active": true,
        "id": "COSM5512553"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5512554",
        "active": true,
        "id": "COSM5512554"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5512555",
        "active": true,
        "id": "COSM5512555"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5512556",
        "active": true,
        "id": "COSM5512556"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5512557",
        "active": true,
        "id": "COSM5512557"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5512558",
        "active": true,
        "id": "COSM5512558"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5512559",
        "active": true,
        "id": "COSM5512559"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274704[alleleid]",
        "alleleId": 274704,
        "preferredName": "NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290467",
        "RCV": [
          "RCV000278926",
          "RCV000793112"
        ],
        "variationId": 290467
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145001801-C-T",
        "id": "8-145001801-C-T",
        "variant": "8:145001801 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145001801C>T?assembly=hg19",
        "id": "chr8:g.145001801C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143927633C>T?assembly=hg38",
        "id": "chr8:g.143927633C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782590380",
        "rs": 782590380
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145001801-C-T?dataset=gnomad_r2_1",
        "id": "8-145001801-C-T",
        "variant": "8:145001801 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143927633-C-T?dataset=gnomad_r3",
        "id": "8-143927633-C-T",
        "variant": "8:143927633 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143927633-C-T?dataset=gnomad_r4",
        "id": "8-143927633-C-T",
        "variant": "8:143927633 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143927633,
          "referenceAllele": "C",
          "start": 143927632
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143927633C>T",
        "CM000670.2:g.143927633C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145001801,
          "referenceAllele": "C",
          "start": 145001800
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145001801C>T",
        "CM000670.1:g.145001801C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145073789,
          "referenceAllele": "C",
          "start": 145073788
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145073789C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54113,
          "referenceAllele": "G",
          "start": 54112
        }
      ],
      "hgvs": [
        "NG_012492.1:g.54113G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3671,
          "referenceAllele": "G",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.3665G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg1222Gln",
        "hgvsWellDefined": "ENSP00000437303.2:p.Arg1222Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3626,
          "referenceAllele": "G",
          "start": 3625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.3584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg1195Gln",
        "hgvsWellDefined": "ENSP00000510528.1:p.Arg1195Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3584,
          "referenceAllele": "G",
          "start": 3583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.3251G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg1084Gln",
        "hgvsWellDefined": "ENSP00000510788.1:p.Arg1084Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3477,
          "referenceAllele": "G",
          "start": 3476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.3464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg1155Gln",
        "hgvsWellDefined": "ENSP00000510329.1:p.Arg1155Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.3533G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg1178Gln",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg1178Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.3533G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.3533G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg1178Gln"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg1178Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3652,
          "referenceAllele": "G",
          "start": 3651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.3614G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Arg1205Gln",
        "hgvsWellDefined": "ENSP00000433982.2:p.Arg1205Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4114,
          "referenceAllele": "G",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.3944G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg1315Gln",
        "hgvsWellDefined": "ENSP00000323856.4:p.Arg1315Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3662,
          "referenceAllele": "G",
          "start": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.3533G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg1178Gln",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg1178Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3601,
          "referenceAllele": "G",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.3533G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg1178Gln",
        "hgvsWellDefined": "ENSP00000346602.3:p.Arg1178Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3616,
          "referenceAllele": "G",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.3467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg1156Gln",
        "hgvsWellDefined": "ENSP00000347044.2:p.Arg1156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3548,
          "referenceAllele": "G",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.3491G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg1164Gln",
        "hgvsWellDefined": "ENSP00000348702.3:p.Arg1164Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.3491G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.3491G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg1164Gln"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg1164Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3554,
          "referenceAllele": "G",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.3545G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg1182Gln",
        "hgvsWellDefined": "ENSP00000350277.2:p.Arg1182Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.3437G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg1146Gln",
        "hgvsWellDefined": "ENSP00000381756.2:p.Arg1146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3652,
          "referenceAllele": "G",
          "start": 3651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.3614G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg1205Gln",
        "hgvsWellDefined": "ENSP00000388180.2:p.Arg1205Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3602,
          "referenceAllele": "G",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.3602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg1201Gln",
        "hgvsWellDefined": "ENSP00000434583.1:p.Arg1201Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173324",
      "coordinates": [
        {
          "allele": "A",
          "end": 3663,
          "referenceAllele": "G",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.3614G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg1205Gln",
        "hgvsWellDefined": "NP_000436.2:p.Arg1205Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476550",
      "coordinates": [
        {
          "allele": "A",
          "end": 3548,
          "referenceAllele": "G",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.3491G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg1164Gln",
        "hgvsWellDefined": "NP_958780.1:p.Arg1164Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483589",
      "coordinates": [
        {
          "allele": "A",
          "end": 3616,
          "referenceAllele": "G",
          "start": 3615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.3467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg1156Gln",
        "hgvsWellDefined": "NP_958781.1:p.Arg1156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458287",
      "coordinates": [
        {
          "allele": "A",
          "end": 4114,
          "referenceAllele": "G",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.3944G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg1315Gln",
        "hgvsWellDefined": "NP_958782.1:p.Arg1315Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490794",
      "coordinates": [
        {
          "allele": "A",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.3437G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg1146Gln",
        "hgvsWellDefined": "NP_958783.1:p.Arg1146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495430",
      "coordinates": [
        {
          "allele": "A",
          "end": 3601,
          "referenceAllele": "G",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.3533G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg1178Gln",
        "hgvsWellDefined": "NP_958784.1:p.Arg1178Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500041",
      "coordinates": [
        {
          "allele": "A",
          "end": 3554,
          "referenceAllele": "G",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.3545G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg1182Gln",
        "hgvsWellDefined": "NP_958785.1:p.Arg1182Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504676",
      "coordinates": [
        {
          "allele": "A",
          "end": 3662,
          "referenceAllele": "G",
          "start": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.3533G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg1178Gln",
        "hgvsWellDefined": "NP_958786.1:p.Arg1178Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4062,
          "referenceAllele": "G",
          "start": 4061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.3959G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg1320Gln",
        "hgvsWellDefined": "XP_005251033.1:p.Arg1320Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3662,
          "referenceAllele": "G",
          "start": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.3560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg1187Gln",
        "hgvsWellDefined": "XP_005251035.1:p.Arg1187Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3605,
          "referenceAllele": "G",
          "start": 3604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.3548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg1183Gln",
        "hgvsWellDefined": "XP_005251036.1:p.Arg1183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3695,
          "referenceAllele": "G",
          "start": 3694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.3548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg1183Gln",
        "hgvsWellDefined": "XP_005251037.1:p.Arg1183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3548,
          "referenceAllele": "G",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.3506G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg1169Gln",
        "hgvsWellDefined": "XP_005251038.1:p.Arg1169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3547,
          "referenceAllele": "G",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.3482G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg1161Gln",
        "hgvsWellDefined": "XP_005251039.1:p.Arg1161Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3479,
          "referenceAllele": "G",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.3464G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg1155Gln",
        "hgvsWellDefined": "XP_005251040.1:p.Arg1155Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3538,
          "referenceAllele": "G",
          "start": 3537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.3452G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg1151Gln",
        "hgvsWellDefined": "XP_005251041.1:p.Arg1151Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3725,
          "referenceAllele": "G",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.3629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg1210Gln",
        "hgvsWellDefined": "XP_006716651.1:p.Arg1210Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3494,
          "referenceAllele": "G",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.3479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg1160Gln",
        "hgvsWellDefined": "XP_006716652.1:p.Arg1160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3494,
          "referenceAllele": "G",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.3479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg1160Gln",
        "hgvsWellDefined": "XP_006716653.1:p.Arg1160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3650,
          "referenceAllele": "G",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.3548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg1183Gln",
        "hgvsWellDefined": "XP_011515432.1:p.Arg1183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3479,
          "referenceAllele": "G",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.3464G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg1155Gln",
        "hgvsWellDefined": "XP_011515433.1:p.Arg1155Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3655,
          "referenceAllele": "G",
          "start": 3654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.3560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1187Gln",
        "hgvsWellDefined": "XP_011515434.1:p.Arg1187Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4155,
          "referenceAllele": "G",
          "start": 4154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.3959G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg1320Gln",
        "hgvsWellDefined": "XP_005251033.1:p.Arg1320Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3681,
          "referenceAllele": "G",
          "start": 3680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.3560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg1187Gln",
        "hgvsWellDefined": "XP_005251035.1:p.Arg1187Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.3548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg1183Gln",
        "hgvsWellDefined": "XP_005251036.1:p.Arg1183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3725,
          "referenceAllele": "G",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.3548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg1183Gln",
        "hgvsWellDefined": "XP_005251037.1:p.Arg1183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3562,
          "referenceAllele": "G",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.3506G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg1169Gln",
        "hgvsWellDefined": "XP_005251038.1:p.Arg1169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3551,
          "referenceAllele": "G",
          "start": 3550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.3482G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg1161Gln",
        "hgvsWellDefined": "XP_005251039.1:p.Arg1161Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4959,
          "referenceAllele": "G",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.3452G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg1151Gln",
        "hgvsWellDefined": "XP_005251041.1:p.Arg1151Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3733,
          "referenceAllele": "G",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.3629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg1210Gln",
        "hgvsWellDefined": "XP_006716651.1:p.Arg1210Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3604,
          "referenceAllele": "G",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.3479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg1160Gln",
        "hgvsWellDefined": "XP_006716653.1:p.Arg1160Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.3548G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg1183Gln",
        "hgvsWellDefined": "XP_011515432.1:p.Arg1183Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3588,
          "referenceAllele": "G",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.3464G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg1155Gln",
        "hgvsWellDefined": "XP_011515433.1:p.Arg1155Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3677,
          "referenceAllele": "G",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.3560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1187Gln",
        "hgvsWellDefined": "XP_011515434.1:p.Arg1187Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173324",
      "coordinates": [
        {
          "allele": "A",
          "end": 3663,
          "referenceAllele": "G",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.3614G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg1205Gln",
        "hgvsWellDefined": "NP_000436.2:p.Arg1205Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476550",
      "coordinates": [
        {
          "allele": "A",
          "end": 3548,
          "referenceAllele": "G",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.3491G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg1164Gln",
        "hgvsWellDefined": "NP_958780.1:p.Arg1164Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.3491G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.3491G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg1164Gln"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg1164Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483589",
      "coordinates": [
        {
          "allele": "A",
          "end": 3530,
          "referenceAllele": "G",
          "start": 3529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.3467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg1156Gln",
        "hgvsWellDefined": "NP_958781.1:p.Arg1156Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458287",
      "coordinates": [
        {
          "allele": "A",
          "end": 4164,
          "referenceAllele": "G",
          "start": 4163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.3944G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg1315Gln",
        "hgvsWellDefined": "NP_958782.1:p.Arg1315Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490794",
      "coordinates": [
        {
          "allele": "A",
          "end": 3544,
          "referenceAllele": "G",
          "start": 3543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.3437G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg1146Gln",
        "hgvsWellDefined": "NP_958783.1:p.Arg1146Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495430",
      "coordinates": [
        {
          "allele": "A",
          "end": 3628,
          "referenceAllele": "G",
          "start": 3627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.3533G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg1178Gln",
        "hgvsWellDefined": "NP_958784.1:p.Arg1178Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500041",
      "coordinates": [
        {
          "allele": "A",
          "end": 3654,
          "referenceAllele": "G",
          "start": 3653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.3545G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg1182Gln",
        "hgvsWellDefined": "NP_958785.1:p.Arg1182Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504676",
      "coordinates": [
        {
          "allele": "A",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.3533G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg1178Gln",
        "hgvsWellDefined": "NP_958786.1:p.Arg1178Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.3533G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.3533G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg1178Gln"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg1178Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}