{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4927541",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.2425C>T (p.Leu809=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584098[alleleid]",
        "alleleId": 584098,
        "preferredName": "NM_201384.3(PLEC):c.2425C>T (p.Leu809=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/593034",
        "RCV": [
          "RCV000727965",
          "RCV002067081"
        ],
        "variationId": 593034
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145004584-G-A",
        "id": "8-145004584-G-A",
        "variant": "8:145004584 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145004584G>A?assembly=hg19",
        "id": "chr8:g.145004584G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143930416G>A?assembly=hg38",
        "id": "chr8:g.143930416G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771803576",
        "rs": 771803576
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145004584-G-A?dataset=gnomad_r2_1",
        "id": "8-145004584-G-A",
        "variant": "8:145004584 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930416-G-A?dataset=gnomad_r3",
        "id": "8-143930416-G-A",
        "variant": "8:143930416 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930416-G-A?dataset=gnomad_r4",
        "id": "8-143930416-G-A",
        "variant": "8:143930416 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143930416,
          "referenceAllele": "G",
          "start": 143930415
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143930416G>A",
        "CM000670.2:g.143930416G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145004584,
          "referenceAllele": "G",
          "start": 145004583
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145004584G>A",
        "CM000670.1:g.145004584G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145076572,
          "referenceAllele": "G",
          "start": 145076571
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145076572G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51330,
          "referenceAllele": "C",
          "start": 51329
        }
      ],
      "hgvs": [
        "NG_012492.1:g.51330C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2563,
          "referenceAllele": "C",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.2557C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Leu853="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "C",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.2476C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Leu826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2476,
          "referenceAllele": "C",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.2143C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Leu715="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.2356C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Leu786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2561,
          "referenceAllele": "C",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Leu809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2425C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2425C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Leu809="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Leu809="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2544,
          "referenceAllele": "C",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.2506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Leu836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3006,
          "referenceAllele": "C",
          "start": 3005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.2836C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Leu946="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2554,
          "referenceAllele": "C",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Leu809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2493,
          "referenceAllele": "C",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Leu809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2508,
          "referenceAllele": "C",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.2359C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Leu787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Leu795="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2383C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2383C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Leu795="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Leu795="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.2437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Leu813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "referenceAllele": "C",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.2329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Leu777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2544,
          "referenceAllele": "C",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.2506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Leu836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2494,
          "referenceAllele": "C",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.2494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Leu832="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173015",
      "coordinates": [
        {
          "allele": "T",
          "end": 2555,
          "referenceAllele": "C",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.2506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Leu836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475941",
      "coordinates": [
        {
          "allele": "T",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Leu795="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483067",
      "coordinates": [
        {
          "allele": "T",
          "end": 2508,
          "referenceAllele": "C",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.2359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Leu787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488324",
      "coordinates": [
        {
          "allele": "T",
          "end": 3006,
          "referenceAllele": "C",
          "start": 3005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.2836C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Leu946="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490451",
      "coordinates": [
        {
          "allele": "T",
          "end": 2403,
          "referenceAllele": "C",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.2329C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Leu777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495080",
      "coordinates": [
        {
          "allele": "T",
          "end": 2493,
          "referenceAllele": "C",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Leu809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499707",
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.2437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Leu813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504328",
      "coordinates": [
        {
          "allele": "T",
          "end": 2554,
          "referenceAllele": "C",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Leu809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2954,
          "referenceAllele": "C",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Leu951="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2554,
          "referenceAllele": "C",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.2452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Leu818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2497,
          "referenceAllele": "C",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Leu814="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2587,
          "referenceAllele": "C",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Leu814="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Leu800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2439,
          "referenceAllele": "C",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Leu792="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.2356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Leu786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2430,
          "referenceAllele": "C",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Leu782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2617,
          "referenceAllele": "C",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Leu841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.2371C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Leu791="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.2371C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Leu791="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "C",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Leu814="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.2356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Leu786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2547,
          "referenceAllele": "C",
          "start": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.2452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Leu818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3047,
          "referenceAllele": "C",
          "start": 3046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.2851C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Leu951="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2573,
          "referenceAllele": "C",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.2452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Leu818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "referenceAllele": "C",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Leu814="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2617,
          "referenceAllele": "C",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Leu814="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2454,
          "referenceAllele": "C",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Leu800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2443,
          "referenceAllele": "C",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.2374C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Leu792="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3851,
          "referenceAllele": "C",
          "start": 3850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.2344C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Leu782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2625,
          "referenceAllele": "C",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.2521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Leu841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2496,
          "referenceAllele": "C",
          "start": 2495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.2371C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Leu791="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2561,
          "referenceAllele": "C",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.2440C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Leu814="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.2356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Leu786="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2569,
          "referenceAllele": "C",
          "start": 2568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.2452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Leu818="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173015",
      "coordinates": [
        {
          "allele": "T",
          "end": 2555,
          "referenceAllele": "C",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.2506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Leu836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475941",
      "coordinates": [
        {
          "allele": "T",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Leu795="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2383C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2383C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Leu795="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Leu795="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483067",
      "coordinates": [
        {
          "allele": "T",
          "end": 2422,
          "referenceAllele": "C",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.2359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Leu787="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488324",
      "coordinates": [
        {
          "allele": "T",
          "end": 3056,
          "referenceAllele": "C",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.2836C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Leu946="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490451",
      "coordinates": [
        {
          "allele": "T",
          "end": 2436,
          "referenceAllele": "C",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.2329C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Leu777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495080",
      "coordinates": [
        {
          "allele": "T",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Leu809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499707",
      "coordinates": [
        {
          "allele": "T",
          "end": 2546,
          "referenceAllele": "C",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.2437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Leu813="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504328",
      "coordinates": [
        {
          "allele": "T",
          "end": 2561,
          "referenceAllele": "C",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.2425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Leu809="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2425C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2425C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Leu809="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Leu809="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}