{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372526262",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1221066",
        "active": true,
        "id": "COSM1221066"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1221067",
        "active": true,
        "id": "COSM1221067"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1221068",
        "active": true,
        "id": "COSM1221068"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868183[alleleid]",
        "alleleId": 1868183,
        "preferredName": "NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2136715",
        "RCV": [
          "RCV003037307"
        ],
        "variationId": 2136715
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144996785G>A?assembly=hg19",
        "id": "chr8:g.144996785G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143922617G>A?assembly=hg38",
        "id": "chr8:g.143922617G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554690016",
        "rs": 1554690016
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144996785-G-A?dataset=gnomad_r2_1",
        "id": "8-144996785-G-A",
        "variant": "8:144996785 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143922617-G-A?dataset=gnomad_r3",
        "id": "8-143922617-G-A",
        "variant": "8:143922617 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143922617-G-A?dataset=gnomad_r4",
        "id": "8-143922617-G-A",
        "variant": "8:143922617 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143922617,
          "referenceAllele": "G",
          "start": 143922616
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143922617G>A",
        "CM000670.2:g.143922617G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144996785,
          "referenceAllele": "G",
          "start": 144996784
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144996785G>A",
        "CM000670.1:g.144996785G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145068773,
          "referenceAllele": "G",
          "start": 145068772
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145068773G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59129,
          "referenceAllele": "C",
          "start": 59128
        }
      ],
      "hgvs": [
        "NG_012492.1:g.59129C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7450,
          "referenceAllele": "C",
          "start": 7449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.7444C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg2482Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7405,
          "referenceAllele": "C",
          "start": 7404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.7363C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg2455Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7363,
          "referenceAllele": "C",
          "start": 7362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.7030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg2344Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7256,
          "referenceAllele": "C",
          "start": 7255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.7243C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg2415Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7448,
          "referenceAllele": "C",
          "start": 7447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.7312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg2438Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7312C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7312C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg2438Ter"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg2438Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4163,
          "endIntronDirection": "-",
          "endIntronOffset": 221,
          "referenceAllele": "C",
          "start": 4163,
          "startIntronDirection": "-",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4126-222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:n.4126-222C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7893,
          "referenceAllele": "C",
          "start": 7892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.7723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg2575Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7441,
          "referenceAllele": "C",
          "start": 7440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.7312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg2438Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7380,
          "referenceAllele": "C",
          "start": 7379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.7312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg2438Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7395,
          "referenceAllele": "C",
          "start": 7394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.7246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg2416Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7327,
          "referenceAllele": "C",
          "start": 7326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.7270C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg2424Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7270C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7270C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg2424Ter"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg2424Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7333,
          "referenceAllele": "C",
          "start": 7332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.7324C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg2442Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7290,
          "referenceAllele": "C",
          "start": 7289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.7216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg2406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7431,
          "referenceAllele": "C",
          "start": 7430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.7393C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg2465Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7381,
          "referenceAllele": "C",
          "start": 7380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg2461Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "-",
          "endIntronOffset": 221,
          "referenceAllele": "C",
          "start": 134,
          "startIntronDirection": "-",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.135-222C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7442,
          "referenceAllele": "C",
          "start": 7441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.7393C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg2465Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7327,
          "referenceAllele": "C",
          "start": 7326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.7270C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg2424Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7395,
          "referenceAllele": "C",
          "start": 7394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.7246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg2416Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7893,
          "referenceAllele": "C",
          "start": 7892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.7723C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg2575Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7290,
          "referenceAllele": "C",
          "start": 7289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.7216C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg2406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7380,
          "referenceAllele": "C",
          "start": 7379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.7312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg2438Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7333,
          "referenceAllele": "C",
          "start": 7332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.7324C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg2442Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7441,
          "referenceAllele": "C",
          "start": 7440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.7312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg2438Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7841,
          "referenceAllele": "C",
          "start": 7840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.7738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg2580Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7441,
          "referenceAllele": "C",
          "start": 7440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.7339C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg2447Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7384,
          "referenceAllele": "C",
          "start": 7383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.7327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg2443Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7474,
          "referenceAllele": "C",
          "start": 7473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.7327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg2443Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7327,
          "referenceAllele": "C",
          "start": 7326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.7285C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg2429Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7326,
          "referenceAllele": "C",
          "start": 7325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.7261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg2421Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7258,
          "referenceAllele": "C",
          "start": 7257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.7243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg2415Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7317,
          "referenceAllele": "C",
          "start": 7316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.7231C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg2411Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7504,
          "referenceAllele": "C",
          "start": 7503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.7408C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg2470Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7273,
          "referenceAllele": "C",
          "start": 7272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.7258C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg2420Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7273,
          "referenceAllele": "C",
          "start": 7272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.7258C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg2420Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7429,
          "referenceAllele": "C",
          "start": 7428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.7327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg2443Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7258,
          "referenceAllele": "C",
          "start": 7257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.7243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg2415Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4166,
          "endIntronDirection": "-",
          "endIntronOffset": 221,
          "referenceAllele": "C",
          "start": 4166,
          "startIntronDirection": "-",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4072-222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-222C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7934,
          "referenceAllele": "C",
          "start": 7933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.7738C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg2580Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7460,
          "referenceAllele": "C",
          "start": 7459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.7339C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg2447Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7419,
          "referenceAllele": "C",
          "start": 7418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.7327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg2443Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7504,
          "referenceAllele": "C",
          "start": 7503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.7327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg2443Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7341,
          "referenceAllele": "C",
          "start": 7340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.7285C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg2429Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7330,
          "referenceAllele": "C",
          "start": 7329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.7261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg2421Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8738,
          "referenceAllele": "C",
          "start": 8737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.7231C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg2411Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7512,
          "referenceAllele": "C",
          "start": 7511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.7408C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg2470Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7383,
          "referenceAllele": "C",
          "start": 7382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.7258C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg2420Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7448,
          "referenceAllele": "C",
          "start": 7447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.7327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg2443Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7367,
          "referenceAllele": "C",
          "start": 7366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.7243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg2415Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4188,
          "endIntronDirection": "-",
          "endIntronOffset": 221,
          "referenceAllele": "C",
          "start": 4188,
          "startIntronDirection": "-",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4072-222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-222C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7442,
          "referenceAllele": "C",
          "start": 7441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.7393C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg2465Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7327,
          "referenceAllele": "C",
          "start": 7326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.7270C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg2424Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7270C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7270C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg2424Ter"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg2424Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7309,
          "referenceAllele": "C",
          "start": 7308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.7246C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg2416Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7943,
          "referenceAllele": "C",
          "start": 7942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.7723C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg2575Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7323,
          "referenceAllele": "C",
          "start": 7322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.7216C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg2406Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7407,
          "referenceAllele": "C",
          "start": 7406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.7312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg2438Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7433,
          "referenceAllele": "C",
          "start": 7432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.7324C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg2442Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7448,
          "referenceAllele": "C",
          "start": 7447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.7312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg2438Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7312C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7312C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg2438Ter"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg2438Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}