{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4925595",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.7527C>T (p.Ile2509=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266642[alleleid]",
        "alleleId": 266642,
        "preferredName": "NM_201384.3(PLEC):c.7527C>T (p.Ile2509=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282405",
        "RCV": [
          "RCV000265742",
          "RCV001088180"
        ],
        "variationId": 282405
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144996462-G-A",
        "id": "8-144996462-G-A",
        "variant": "8:144996462 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144996462G>A?assembly=hg19",
        "id": "chr8:g.144996462G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143922294G>A?assembly=hg38",
        "id": "chr8:g.143922294G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782605503",
        "rs": 782605503
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144996462-G-A?dataset=gnomad_r2_1",
        "id": "8-144996462-G-A",
        "variant": "8:144996462 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143922294-G-A?dataset=gnomad_r3",
        "id": "8-143922294-G-A",
        "variant": "8:143922294 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143922294-G-A?dataset=gnomad_r4",
        "id": "8-143922294-G-A",
        "variant": "8:143922294 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143922294,
          "referenceAllele": "G",
          "start": 143922293
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143922294G>A",
        "CM000670.2:g.143922294G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144996462,
          "referenceAllele": "G",
          "start": 144996461
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144996462G>A",
        "CM000670.1:g.144996462G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145068450,
          "referenceAllele": "G",
          "start": 145068449
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145068450G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59452,
          "referenceAllele": "C",
          "start": 59451
        }
      ],
      "hgvs": [
        "NG_012492.1:g.59452C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7665,
          "referenceAllele": "C",
          "start": 7664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.7659C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ile2553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7620,
          "referenceAllele": "C",
          "start": 7619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.7578C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ile2526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7578,
          "referenceAllele": "C",
          "start": 7577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.7245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ile2415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7471,
          "referenceAllele": "C",
          "start": 7470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.7458C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ile2486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7663,
          "referenceAllele": "C",
          "start": 7662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.7527C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ile2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7527C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7527C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ile2509="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ile2509="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4265,
          "referenceAllele": "C",
          "start": 4264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4227C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ile1409="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8108,
          "referenceAllele": "C",
          "start": 8107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.7938C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ile2646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7656,
          "referenceAllele": "C",
          "start": 7655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.7527C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ile2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7595,
          "referenceAllele": "C",
          "start": 7594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.7527C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ile2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7610,
          "referenceAllele": "C",
          "start": 7609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.7461C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ile2487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7542,
          "referenceAllele": "C",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.7485C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ile2495="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7485C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7485C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ile2495="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ile2495="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7548,
          "referenceAllele": "C",
          "start": 7547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.7539C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ile2513="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7505,
          "referenceAllele": "C",
          "start": 7504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.7431C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ile2477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7646,
          "referenceAllele": "C",
          "start": 7645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.7608C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ile2536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7596,
          "referenceAllele": "C",
          "start": 7595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.7596C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ile2532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "referenceAllele": "C",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.236C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174907",
      "coordinates": [
        {
          "allele": "T",
          "end": 7657,
          "referenceAllele": "C",
          "start": 7656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.7608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ile2536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479161",
      "coordinates": [
        {
          "allele": "T",
          "end": 7542,
          "referenceAllele": "C",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.7485C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ile2495="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830485962",
      "coordinates": [
        {
          "allele": "T",
          "end": 7610,
          "referenceAllele": "C",
          "start": 7609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.7461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ile2487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489056",
      "coordinates": [
        {
          "allele": "T",
          "end": 8108,
          "referenceAllele": "C",
          "start": 8107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.7938C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ile2646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492378",
      "coordinates": [
        {
          "allele": "T",
          "end": 7505,
          "referenceAllele": "C",
          "start": 7504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.7431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ile2477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497013",
      "coordinates": [
        {
          "allele": "T",
          "end": 7595,
          "referenceAllele": "C",
          "start": 7594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.7527C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ile2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501625",
      "coordinates": [
        {
          "allele": "T",
          "end": 7548,
          "referenceAllele": "C",
          "start": 7547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.7539C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ile2513="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506259",
      "coordinates": [
        {
          "allele": "T",
          "end": 7656,
          "referenceAllele": "C",
          "start": 7655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.7527C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ile2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8056,
          "referenceAllele": "C",
          "start": 8055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.7953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ile2651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7656,
          "referenceAllele": "C",
          "start": 7655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.7554C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ile2518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7599,
          "referenceAllele": "C",
          "start": 7598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.7542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ile2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7689,
          "referenceAllele": "C",
          "start": 7688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.7542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ile2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7542,
          "referenceAllele": "C",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.7500C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ile2500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7541,
          "referenceAllele": "C",
          "start": 7540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.7476C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ile2492="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7473,
          "referenceAllele": "C",
          "start": 7472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.7458C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ile2486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7532,
          "referenceAllele": "C",
          "start": 7531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.7446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ile2482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7719,
          "referenceAllele": "C",
          "start": 7718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.7623C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ile2541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7488,
          "referenceAllele": "C",
          "start": 7487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.7473C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ile2491="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7488,
          "referenceAllele": "C",
          "start": 7487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.7473C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ile2491="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7644,
          "referenceAllele": "C",
          "start": 7643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.7542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ile2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7473,
          "referenceAllele": "C",
          "start": 7472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.7458C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ile2486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4268,
          "referenceAllele": "C",
          "start": 4267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ile1391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8149,
          "referenceAllele": "C",
          "start": 8148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.7953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ile2651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7675,
          "referenceAllele": "C",
          "start": 7674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.7554C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ile2518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7634,
          "referenceAllele": "C",
          "start": 7633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.7542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ile2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7719,
          "referenceAllele": "C",
          "start": 7718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.7542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ile2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7556,
          "referenceAllele": "C",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.7500C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ile2500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7545,
          "referenceAllele": "C",
          "start": 7544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.7476C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ile2492="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8953,
          "referenceAllele": "C",
          "start": 8952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.7446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ile2482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7727,
          "referenceAllele": "C",
          "start": 7726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.7623C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ile2541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7598,
          "referenceAllele": "C",
          "start": 7597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.7473C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ile2491="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7663,
          "referenceAllele": "C",
          "start": 7662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.7542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ile2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7582,
          "referenceAllele": "C",
          "start": 7581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.7458C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ile2486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4290,
          "referenceAllele": "C",
          "start": 4289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ile1391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174907",
      "coordinates": [
        {
          "allele": "T",
          "end": 7657,
          "referenceAllele": "C",
          "start": 7656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.7608C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ile2536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479161",
      "coordinates": [
        {
          "allele": "T",
          "end": 7542,
          "referenceAllele": "C",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.7485C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ile2495="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7485C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7485C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ile2495="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ile2495="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830485962",
      "coordinates": [
        {
          "allele": "T",
          "end": 7524,
          "referenceAllele": "C",
          "start": 7523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.7461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ile2487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489056",
      "coordinates": [
        {
          "allele": "T",
          "end": 8158,
          "referenceAllele": "C",
          "start": 8157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.7938C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ile2646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492378",
      "coordinates": [
        {
          "allele": "T",
          "end": 7538,
          "referenceAllele": "C",
          "start": 7537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.7431C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ile2477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497013",
      "coordinates": [
        {
          "allele": "T",
          "end": 7622,
          "referenceAllele": "C",
          "start": 7621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.7527C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ile2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501625",
      "coordinates": [
        {
          "allele": "T",
          "end": 7648,
          "referenceAllele": "C",
          "start": 7647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.7539C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ile2513="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506259",
      "coordinates": [
        {
          "allele": "T",
          "end": 7663,
          "referenceAllele": "C",
          "start": 7662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.7527C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ile2509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7527C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7527C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ile2509="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ile2509="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}