{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4927428",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.2643G>A (p.Thr881=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=982685[alleleid]",
        "alleleId": 982685,
        "preferredName": "NM_201384.3(PLEC):c.2643G>A (p.Thr881=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/995210",
        "RCV": [
          "RCV001289144",
          "RCV001471002"
        ],
        "variationId": 995210
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145004200-C-T",
        "id": "8-145004200-C-T",
        "variant": "8:145004200 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145004200C>T?assembly=hg19",
        "id": "chr8:g.145004200C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143930032C>T?assembly=hg38",
        "id": "chr8:g.143930032C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369973592",
        "rs": 369973592
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145004200-C-T?dataset=gnomad_r2_1",
        "id": "8-145004200-C-T",
        "variant": "8:145004200 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930032-C-T?dataset=gnomad_r3",
        "id": "8-143930032-C-T",
        "variant": "8:143930032 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930032-C-T?dataset=gnomad_r4",
        "id": "8-143930032-C-T",
        "variant": "8:143930032 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143930032,
          "referenceAllele": "C",
          "start": 143930031
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143930032C>T",
        "CM000670.2:g.143930032C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145004200,
          "referenceAllele": "C",
          "start": 145004199
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145004200C>T",
        "CM000670.1:g.145004200C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145076188,
          "referenceAllele": "C",
          "start": 145076187
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145076188C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51714,
          "referenceAllele": "G",
          "start": 51713
        }
      ],
      "hgvs": [
        "NG_012492.1:g.51714G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2781,
          "referenceAllele": "G",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.2775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Thr925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2736,
          "referenceAllele": "G",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.2694G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Thr898="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2694,
          "referenceAllele": "G",
          "start": 2693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.2361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Thr787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2587,
          "referenceAllele": "G",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.2574G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Thr858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2779,
          "referenceAllele": "G",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.2643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2643G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2643G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr881="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr881="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2762,
          "referenceAllele": "G",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.2724G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Thr908="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.3054G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Thr1018="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2772,
          "referenceAllele": "G",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.2643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2711,
          "referenceAllele": "G",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.2643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Thr881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2726,
          "referenceAllele": "G",
          "start": 2725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.2577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Thr859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2658,
          "referenceAllele": "G",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.2601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Thr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2601G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2601G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr867="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr867="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2664,
          "referenceAllele": "G",
          "start": 2663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.2655G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Thr885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2621,
          "referenceAllele": "G",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.2547G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Thr849="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2762,
          "referenceAllele": "G",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.2724G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Thr908="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2712,
          "referenceAllele": "G",
          "start": 2711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.2712G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Thr904="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173073",
      "coordinates": [
        {
          "allele": "A",
          "end": 2773,
          "referenceAllele": "G",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.2724G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr908="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476091",
      "coordinates": [
        {
          "allele": "A",
          "end": 2658,
          "referenceAllele": "G",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.2601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483168",
      "coordinates": [
        {
          "allele": "A",
          "end": 2726,
          "referenceAllele": "G",
          "start": 2725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.2577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488358",
      "coordinates": [
        {
          "allele": "A",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.3054G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr1018="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490515",
      "coordinates": [
        {
          "allele": "A",
          "end": 2621,
          "referenceAllele": "G",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.2547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr849="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495144",
      "coordinates": [
        {
          "allele": "A",
          "end": 2711,
          "referenceAllele": "G",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.2643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499771",
      "coordinates": [
        {
          "allele": "A",
          "end": 2664,
          "referenceAllele": "G",
          "start": 2663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.2655G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504391",
      "coordinates": [
        {
          "allele": "A",
          "end": 2772,
          "referenceAllele": "G",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.2643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3172,
          "referenceAllele": "G",
          "start": 3171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.3069G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr1023="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2772,
          "referenceAllele": "G",
          "start": 2771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.2670G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr890="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.2658G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2805,
          "referenceAllele": "G",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.2658G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2658,
          "referenceAllele": "G",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.2616G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2657,
          "referenceAllele": "G",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.2592G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr864="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.2574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Thr858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2648,
          "referenceAllele": "G",
          "start": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.2562G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2835,
          "referenceAllele": "G",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.2739G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr913="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.2589G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Thr863="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.2589G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr863="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2760,
          "referenceAllele": "G",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.2658G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.2574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2765,
          "referenceAllele": "G",
          "start": 2764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.2670G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr890="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3265,
          "referenceAllele": "G",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.3069G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr1023="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2791,
          "referenceAllele": "G",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.2670G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr890="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2750,
          "referenceAllele": "G",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.2658G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2835,
          "referenceAllele": "G",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.2658G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2672,
          "referenceAllele": "G",
          "start": 2671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.2616G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr872="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2661,
          "referenceAllele": "G",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.2592G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr864="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4069,
          "referenceAllele": "G",
          "start": 4068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.2562G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2843,
          "referenceAllele": "G",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.2739G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr913="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2714,
          "referenceAllele": "G",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.2589G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr863="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2779,
          "referenceAllele": "G",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.2658G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr886="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2698,
          "referenceAllele": "G",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.2574G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2787,
          "referenceAllele": "G",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.2670G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr890="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173073",
      "coordinates": [
        {
          "allele": "A",
          "end": 2773,
          "referenceAllele": "G",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.2724G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr908="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476091",
      "coordinates": [
        {
          "allele": "A",
          "end": 2658,
          "referenceAllele": "G",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.2601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2601G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2601G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr867="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr867="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483168",
      "coordinates": [
        {
          "allele": "A",
          "end": 2640,
          "referenceAllele": "G",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.2577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488358",
      "coordinates": [
        {
          "allele": "A",
          "end": 3274,
          "referenceAllele": "G",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.3054G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr1018="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490515",
      "coordinates": [
        {
          "allele": "A",
          "end": 2654,
          "referenceAllele": "G",
          "start": 2653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.2547G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr849="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495144",
      "coordinates": [
        {
          "allele": "A",
          "end": 2738,
          "referenceAllele": "G",
          "start": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.2643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499771",
      "coordinates": [
        {
          "allele": "A",
          "end": 2764,
          "referenceAllele": "G",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.2655G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504391",
      "coordinates": [
        {
          "allele": "A",
          "end": 2779,
          "referenceAllele": "G",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.2643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2643G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2643G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr881="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr881="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}