{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA249467",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3412839",
        "active": true,
        "id": "COSM3412839"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3412840",
        "active": true,
        "id": "COSM3412840"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3412841",
        "active": true,
        "id": "COSM3412841"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3412842",
        "active": true,
        "id": "COSM3412842"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3412843",
        "active": true,
        "id": "COSM3412843"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4781892",
        "active": true,
        "id": "COSM4781892"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4781893",
        "active": true,
        "id": "COSM4781893"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23305[alleleid]",
        "alleleId": 23305,
        "preferredName": "NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8266",
        "RCV": [
          "RCV000008755",
          "RCV001851744"
        ],
        "variationId": 8266
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144994985G>A?assembly=hg19",
        "id": "chr8:g.144994985G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143920817G>A?assembly=hg38",
        "id": "chr8:g.143920817G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853161",
        "rs": 137853161
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144994985-G-A?dataset=gnomad_r2_1",
        "id": "8-144994985-G-A",
        "variant": "8:144994985 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143920817-G-A?dataset=gnomad_r4",
        "id": "8-143920817-G-A",
        "variant": "8:143920817 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143920817,
          "referenceAllele": "G",
          "start": 143920816
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143920817G>A",
        "CM000670.2:g.143920817G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144994985,
          "referenceAllele": "G",
          "start": 144994984
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144994985G>A",
        "CM000670.1:g.144994985G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145066973,
          "referenceAllele": "G",
          "start": 145066972
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145066973G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60929,
          "referenceAllele": "C",
          "start": 60928
        }
      ],
      "hgvs": [
        "NG_012492.1:g.60929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9142,
          "referenceAllele": "C",
          "start": 9141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.9136C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg3046Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9097,
          "referenceAllele": "C",
          "start": 9096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.9055C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg3019Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9055,
          "referenceAllele": "C",
          "start": 9054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.8722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg2908Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8948,
          "referenceAllele": "C",
          "start": 8947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.8935C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg2979Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9140,
          "referenceAllele": "C",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.9004C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg3002Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9004C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9004C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg3002Ter"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg3002Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5742,
          "referenceAllele": "C",
          "start": 5741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.5704C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Arg1902Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9585,
          "referenceAllele": "C",
          "start": 9584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.9415C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg3139Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9133,
          "referenceAllele": "C",
          "start": 9132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.9004C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg3002Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9072,
          "referenceAllele": "C",
          "start": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.9004C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg3002Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9087,
          "referenceAllele": "C",
          "start": 9086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.8938C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg2980Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9019,
          "referenceAllele": "C",
          "start": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.8962C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg2988Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.8962C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.8962C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg2988Ter"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg2988Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9025,
          "referenceAllele": "C",
          "start": 9024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.9016C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg3006Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8982,
          "referenceAllele": "C",
          "start": 8981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.8908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg2970Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9123,
          "referenceAllele": "C",
          "start": 9122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.9085C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg3029Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9073,
          "referenceAllele": "C",
          "start": 9072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.9073C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg3025Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9134,
          "referenceAllele": "C",
          "start": 9133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.9085C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg3029Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9019,
          "referenceAllele": "C",
          "start": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.8962C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg2988Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9087,
          "referenceAllele": "C",
          "start": 9086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.8938C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg2980Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9585,
          "referenceAllele": "C",
          "start": 9584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.9415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg3139Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8982,
          "referenceAllele": "C",
          "start": 8981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.8908C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg2970Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9072,
          "referenceAllele": "C",
          "start": 9071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.9004C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg3002Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9025,
          "referenceAllele": "C",
          "start": 9024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.9016C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg3006Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9133,
          "referenceAllele": "C",
          "start": 9132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.9004C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg3002Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9533,
          "referenceAllele": "C",
          "start": 9532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.9430C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg3144Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9133,
          "referenceAllele": "C",
          "start": 9132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.9031C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg3011Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9076,
          "referenceAllele": "C",
          "start": 9075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.9019C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg3007Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9166,
          "referenceAllele": "C",
          "start": 9165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.9019C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg3007Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9019,
          "referenceAllele": "C",
          "start": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.8977C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg2993Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9018,
          "referenceAllele": "C",
          "start": 9017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.8953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg2985Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8950,
          "referenceAllele": "C",
          "start": 8949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.8935C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg2979Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9009,
          "referenceAllele": "C",
          "start": 9008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.8923C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg2975Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9196,
          "referenceAllele": "C",
          "start": 9195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.9100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg3034Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.8950C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg2984Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8965,
          "referenceAllele": "C",
          "start": 8964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.8950C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg2984Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9121,
          "referenceAllele": "C",
          "start": 9120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.9019C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg3007Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8950,
          "referenceAllele": "C",
          "start": 8949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.8935C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg2979Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5745,
          "referenceAllele": "C",
          "start": 5744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.5650C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1884Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9626,
          "referenceAllele": "C",
          "start": 9625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.9430C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg3144Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9152,
          "referenceAllele": "C",
          "start": 9151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.9031C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg3011Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9111,
          "referenceAllele": "C",
          "start": 9110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.9019C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg3007Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9196,
          "referenceAllele": "C",
          "start": 9195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.9019C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg3007Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9033,
          "referenceAllele": "C",
          "start": 9032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.8977C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg2993Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9022,
          "referenceAllele": "C",
          "start": 9021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.8953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg2985Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10430,
          "referenceAllele": "C",
          "start": 10429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.8923C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg2975Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9204,
          "referenceAllele": "C",
          "start": 9203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.9100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg3034Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9075,
          "referenceAllele": "C",
          "start": 9074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.8950C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg2984Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9140,
          "referenceAllele": "C",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.9019C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg3007Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9059,
          "referenceAllele": "C",
          "start": 9058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.8935C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg2979Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5767,
          "referenceAllele": "C",
          "start": 5766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.5650C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1884Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9134,
          "referenceAllele": "C",
          "start": 9133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.9085C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg3029Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9019,
          "referenceAllele": "C",
          "start": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.8962C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg2988Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.8962C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.8962C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg2988Ter"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg2988Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9001,
          "referenceAllele": "C",
          "start": 9000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.8938C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg2980Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9635,
          "referenceAllele": "C",
          "start": 9634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.9415C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg3139Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9015,
          "referenceAllele": "C",
          "start": 9014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.8908C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg2970Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9099,
          "referenceAllele": "C",
          "start": 9098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.9004C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg3002Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9125,
          "referenceAllele": "C",
          "start": 9124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.9016C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg3006Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9140,
          "referenceAllele": "C",
          "start": 9139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.9004C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg3002Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9004C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9004C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg3002Ter"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg3002Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}