{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4924789",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=588484[alleleid]",
        "alleleId": 588484,
        "preferredName": "NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/597423",
        "RCV": [
          "RCV000733539",
          "RCV001457745"
        ],
        "variationId": 597423
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144993978-C-T",
        "id": "8-144993978-C-T",
        "variant": "8:144993978 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144993978C>T?assembly=hg19",
        "id": "chr8:g.144993978C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143919810C>T?assembly=hg38",
        "id": "chr8:g.143919810C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367762942",
        "rs": 367762942
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144993978-C-T?dataset=gnomad_r2_1",
        "id": "8-144993978-C-T",
        "variant": "8:144993978 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919810-C-T?dataset=gnomad_r3",
        "id": "8-143919810-C-T",
        "variant": "8:143919810 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143919810-C-T?dataset=gnomad_r4",
        "id": "8-143919810-C-T",
        "variant": "8:143919810 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143919810,
          "referenceAllele": "C",
          "start": 143919809
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143919810C>T",
        "CM000670.2:g.143919810C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144993978,
          "referenceAllele": "C",
          "start": 144993977
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144993978C>T",
        "CM000670.1:g.144993978C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145065966,
          "referenceAllele": "C",
          "start": 145065965
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145065966C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61936,
          "referenceAllele": "G",
          "start": 61935
        }
      ],
      "hgvs": [
        "NG_012492.1:g.61936G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10149,
          "referenceAllele": "G",
          "start": 10148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.10143G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Thr3381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10104,
          "referenceAllele": "G",
          "start": 10103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.10062G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Thr3354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10062,
          "referenceAllele": "G",
          "start": 10061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.9729G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Thr3243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9955,
          "referenceAllele": "G",
          "start": 9954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.9942G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Thr3314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10147,
          "referenceAllele": "G",
          "start": 10146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.10011G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr3337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.10011G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.10011G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr3337="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr3337="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6749,
          "referenceAllele": "G",
          "start": 6748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.6711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Thr2237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10592,
          "referenceAllele": "G",
          "start": 10591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.10422G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Thr3474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10140,
          "referenceAllele": "G",
          "start": 10139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.10011G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr3337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10079,
          "referenceAllele": "G",
          "start": 10078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.10011G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Thr3337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10094,
          "referenceAllele": "G",
          "start": 10093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.9945G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Thr3315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10026,
          "referenceAllele": "G",
          "start": 10025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.9969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Thr3323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9969G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9969G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr3323="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr3323="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10032,
          "referenceAllele": "G",
          "start": 10031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.10023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Thr3341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9989,
          "referenceAllele": "G",
          "start": 9988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.9915G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Thr3305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10130,
          "referenceAllele": "G",
          "start": 10129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.10092G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Thr3364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10080,
          "referenceAllele": "G",
          "start": 10079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.10080G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Thr3360="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175794",
      "coordinates": [
        {
          "allele": "A",
          "end": 10141,
          "referenceAllele": "G",
          "start": 10140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.10092G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr3364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480349",
      "coordinates": [
        {
          "allele": "A",
          "end": 10026,
          "referenceAllele": "G",
          "start": 10025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.9969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr3323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486873",
      "coordinates": [
        {
          "allele": "A",
          "end": 10094,
          "referenceAllele": "G",
          "start": 10093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.9945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr3315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489378",
      "coordinates": [
        {
          "allele": "A",
          "end": 10592,
          "referenceAllele": "G",
          "start": 10591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.10422G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr3474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493264",
      "coordinates": [
        {
          "allele": "A",
          "end": 9989,
          "referenceAllele": "G",
          "start": 9988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.9915G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr3305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497900",
      "coordinates": [
        {
          "allele": "A",
          "end": 10079,
          "referenceAllele": "G",
          "start": 10078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.10011G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr3337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502510",
      "coordinates": [
        {
          "allele": "A",
          "end": 10032,
          "referenceAllele": "G",
          "start": 10031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.10023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr3341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507145",
      "coordinates": [
        {
          "allele": "A",
          "end": 10140,
          "referenceAllele": "G",
          "start": 10139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.10011G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr3337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10540,
          "referenceAllele": "G",
          "start": 10539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.10437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr3479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10140,
          "referenceAllele": "G",
          "start": 10139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.10038G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr3346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10083,
          "referenceAllele": "G",
          "start": 10082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.10026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr3342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10173,
          "referenceAllele": "G",
          "start": 10172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.10026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr3342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10026,
          "referenceAllele": "G",
          "start": 10025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.9984G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr3328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10025,
          "referenceAllele": "G",
          "start": 10024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.9960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr3320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9957,
          "referenceAllele": "G",
          "start": 9956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.9942G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Thr3314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10016,
          "referenceAllele": "G",
          "start": 10015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.9930G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr3310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10203,
          "referenceAllele": "G",
          "start": 10202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.10107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr3369="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9972,
          "referenceAllele": "G",
          "start": 9971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.9957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Thr3319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9972,
          "referenceAllele": "G",
          "start": 9971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.9957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr3319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10128,
          "referenceAllele": "G",
          "start": 10127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.10026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr3342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9957,
          "referenceAllele": "G",
          "start": 9956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.9942G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr3314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6752,
          "referenceAllele": "G",
          "start": 6751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.6657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr2219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10633,
          "referenceAllele": "G",
          "start": 10632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.10437G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr3479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10159,
          "referenceAllele": "G",
          "start": 10158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.10038G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr3346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10118,
          "referenceAllele": "G",
          "start": 10117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.10026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr3342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10203,
          "referenceAllele": "G",
          "start": 10202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.10026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr3342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10040,
          "referenceAllele": "G",
          "start": 10039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.9984G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr3328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10029,
          "referenceAllele": "G",
          "start": 10028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.9960G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr3320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11437,
          "referenceAllele": "G",
          "start": 11436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.9930G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr3310="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10211,
          "referenceAllele": "G",
          "start": 10210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.10107G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr3369="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10082,
          "referenceAllele": "G",
          "start": 10081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.9957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr3319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10147,
          "referenceAllele": "G",
          "start": 10146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.10026G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr3342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10066,
          "referenceAllele": "G",
          "start": 10065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.9942G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr3314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6774,
          "referenceAllele": "G",
          "start": 6773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.6657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr2219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175794",
      "coordinates": [
        {
          "allele": "A",
          "end": 10141,
          "referenceAllele": "G",
          "start": 10140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.10092G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr3364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830480349",
      "coordinates": [
        {
          "allele": "A",
          "end": 10026,
          "referenceAllele": "G",
          "start": 10025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.9969G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr3323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9969G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9969G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr3323="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr3323="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486873",
      "coordinates": [
        {
          "allele": "A",
          "end": 10008,
          "referenceAllele": "G",
          "start": 10007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.9945G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr3315="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489378",
      "coordinates": [
        {
          "allele": "A",
          "end": 10642,
          "referenceAllele": "G",
          "start": 10641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.10422G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr3474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830493264",
      "coordinates": [
        {
          "allele": "A",
          "end": 10022,
          "referenceAllele": "G",
          "start": 10021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.9915G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr3305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497900",
      "coordinates": [
        {
          "allele": "A",
          "end": 10106,
          "referenceAllele": "G",
          "start": 10105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.10011G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr3337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502510",
      "coordinates": [
        {
          "allele": "A",
          "end": 10132,
          "referenceAllele": "G",
          "start": 10131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.10023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr3341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830507145",
      "coordinates": [
        {
          "allele": "A",
          "end": 10147,
          "referenceAllele": "G",
          "start": 10146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.10011G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr3337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.10011G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.10011G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr3337="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr3337="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}