{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4928221",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.1002C>T (p.Ala334=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584100[alleleid]",
        "alleleId": 584100,
        "preferredName": "NM_201384.3(PLEC):c.1002C>T (p.Ala334=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/593036",
        "RCV": [
          "RCV000727967",
          "RCV001078546",
          "RCV004535811"
        ],
        "variationId": 593036
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145008842-G-A",
        "id": "8-145008842-G-A",
        "variant": "8:145008842 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145008842G>A?assembly=hg19",
        "id": "chr8:g.145008842G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143934674G>A?assembly=hg38",
        "id": "chr8:g.143934674G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370574829",
        "rs": 370574829
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145008842-G-A?dataset=gnomad_r2_1",
        "id": "8-145008842-G-A",
        "variant": "8:145008842 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143934674-G-A?dataset=gnomad_r3",
        "id": "8-143934674-G-A",
        "variant": "8:143934674 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143934674-G-A?dataset=gnomad_r4",
        "id": "8-143934674-G-A",
        "variant": "8:143934674 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143934674,
          "referenceAllele": "G",
          "start": 143934673
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143934674G>A",
        "CM000670.2:g.143934674G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145008842,
          "referenceAllele": "G",
          "start": 145008841
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145008842G>A",
        "CM000670.1:g.145008842G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145080830,
          "referenceAllele": "G",
          "start": 145080829
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145080830G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47072,
          "referenceAllele": "C",
          "start": 47071
        }
      ],
      "hgvs": [
        "NG_012492.1:g.47072C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.1134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ala378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1095,
          "referenceAllele": "C",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.1053C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ala351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.720C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ala240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.1002C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.1002C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala334="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala334="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.1083C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.1413C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ala471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1070,
          "referenceAllele": "C",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ala334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.936C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ala312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.960C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ala320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.960C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.960C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala320="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala320="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.1014C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ala338="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.906C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.1083C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.1071C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ala357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.5:c.1134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.1:p.Ala378="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825172577",
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.1083C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475176",
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.960C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830482396",
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.936C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488181",
      "coordinates": [
        {
          "allele": "T",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.1413C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490013",
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.906C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494642",
      "coordinates": [
        {
          "allele": "T",
          "end": 1070,
          "referenceAllele": "C",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499269",
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.1014C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala338="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503891",
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.1428C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala476="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.1029C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.1017C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.1017C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.975C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ala316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.1017C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.1029C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.1428C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala476="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.1029C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.1017C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.1017C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.975C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.951C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "referenceAllele": "C",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.1017C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.933C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.1029C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825172577",
      "coordinates": [
        {
          "allele": "T",
          "end": 1132,
          "referenceAllele": "C",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.1083C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830475176",
      "coordinates": [
        {
          "allele": "T",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.960C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.960C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.960C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala320="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala320="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830482396",
      "coordinates": [
        {
          "allele": "T",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.936C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488181",
      "coordinates": [
        {
          "allele": "T",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.1413C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490013",
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.906C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494642",
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499269",
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "C",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.1014C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala338="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503891",
      "coordinates": [
        {
          "allele": "T",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.1002C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.1002C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala334="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala334="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}