{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4927551",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.2391C>T (p.Arg797=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584011[alleleid]",
        "alleleId": 584011,
        "preferredName": "NM_201384.3(PLEC):c.2391C>T (p.Arg797=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/592946",
        "RCV": [
          "RCV000727838",
          "RCV001437160"
        ],
        "variationId": 592946
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145004618-G-A",
        "id": "8-145004618-G-A",
        "variant": "8:145004618 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145004618G>A?assembly=hg19",
        "id": "chr8:g.145004618G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143930450G>A?assembly=hg38",
        "id": "chr8:g.143930450G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782701313",
        "rs": 782701313
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145004618-G-A?dataset=gnomad_r2_1",
        "id": "8-145004618-G-A",
        "variant": "8:145004618 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930450-G-A?dataset=gnomad_r3",
        "id": "8-143930450-G-A",
        "variant": "8:143930450 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143930450-G-A?dataset=gnomad_r4",
        "id": "8-143930450-G-A",
        "variant": "8:143930450 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143930450,
          "referenceAllele": "G",
          "start": 143930449
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143930450G>A",
        "CM000670.2:g.143930450G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145004618,
          "referenceAllele": "G",
          "start": 145004617
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145004618G>A",
        "CM000670.1:g.145004618G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145076606,
          "referenceAllele": "G",
          "start": 145076605
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145076606G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51296,
          "referenceAllele": "C",
          "start": 51295
        }
      ],
      "hgvs": [
        "NG_012492.1:g.51296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2529,
          "referenceAllele": "C",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.2523C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg841="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.2442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg814="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "referenceAllele": "C",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.2322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "referenceAllele": "C",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg797="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg797="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.2472C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Arg824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2972,
          "referenceAllele": "C",
          "start": 2971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "referenceAllele": "C",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2474,
          "referenceAllele": "C",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.2325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.2349C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2349C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2349C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg783="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg783="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2412,
          "referenceAllele": "C",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.2403C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg801="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.2295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg765="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.2472C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2460,
          "referenceAllele": "C",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.2460C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173001",
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "referenceAllele": "C",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.2472C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475919",
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.2349C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483047",
      "coordinates": [
        {
          "allele": "T",
          "end": 2474,
          "referenceAllele": "C",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.2325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488319",
      "coordinates": [
        {
          "allele": "T",
          "end": 2972,
          "referenceAllele": "C",
          "start": 2971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490436",
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.2295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg765="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495067",
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "referenceAllele": "C",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499694",
      "coordinates": [
        {
          "allele": "T",
          "end": 2412,
          "referenceAllele": "C",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.2403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg801="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504315",
      "coordinates": [
        {
          "allele": "T",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2920,
          "referenceAllele": "C",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.2817C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2520,
          "referenceAllele": "C",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.2418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2463,
          "referenceAllele": "C",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.2406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2553,
          "referenceAllele": "C",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.2406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.2364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.2340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.2322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2396,
          "referenceAllele": "C",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.2310C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2352,
          "referenceAllele": "C",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.2337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2352,
          "referenceAllele": "C",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.2337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2508,
          "referenceAllele": "C",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.2406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.2322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "C",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.2418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3013,
          "referenceAllele": "C",
          "start": 3012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.2817C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2539,
          "referenceAllele": "C",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.2418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2498,
          "referenceAllele": "C",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.2406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.2406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.2364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2409,
          "referenceAllele": "C",
          "start": 2408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.2340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3817,
          "referenceAllele": "C",
          "start": 3816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.2310C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2591,
          "referenceAllele": "C",
          "start": 2590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.2487C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "referenceAllele": "C",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.2337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg779="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "referenceAllele": "C",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.2406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg802="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.2322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2535,
          "referenceAllele": "C",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.2418C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173001",
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "referenceAllele": "C",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.2472C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg824="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475919",
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "C",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.2349C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2349C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2349C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg783="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg783="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483047",
      "coordinates": [
        {
          "allele": "T",
          "end": 2388,
          "referenceAllele": "C",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.2325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488319",
      "coordinates": [
        {
          "allele": "T",
          "end": 3022,
          "referenceAllele": "C",
          "start": 3021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490436",
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "C",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.2295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg765="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495067",
      "coordinates": [
        {
          "allele": "T",
          "end": 2486,
          "referenceAllele": "C",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499694",
      "coordinates": [
        {
          "allele": "T",
          "end": 2512,
          "referenceAllele": "C",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.2403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg801="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504315",
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "referenceAllele": "C",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg797="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg797="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}