{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4923809",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.13437C>T (p.Ser4479=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=589483[alleleid]",
        "alleleId": 589483,
        "preferredName": "NM_201384.3(PLEC):c.13437C>T (p.Ser4479=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/598422",
        "RCV": [
          "RCV000734804",
          "RCV001414397"
        ],
        "variationId": 598422
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144990552-G-A",
        "id": "8-144990552-G-A",
        "variant": "8:144990552 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144990552G>A?assembly=hg19",
        "id": "chr8:g.144990552G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143916384G>A?assembly=hg38",
        "id": "chr8:g.143916384G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782221357",
        "rs": 782221357
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144990552-G-A?dataset=gnomad_r2_1",
        "id": "8-144990552-G-A",
        "variant": "8:144990552 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143916384-G-A?dataset=gnomad_r3",
        "id": "8-143916384-G-A",
        "variant": "8:143916384 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143916384-G-A?dataset=gnomad_r4",
        "id": "8-143916384-G-A",
        "variant": "8:143916384 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143916384,
          "referenceAllele": "G",
          "start": 143916383
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143916384G>A",
        "CM000670.2:g.143916384G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144990552,
          "referenceAllele": "G",
          "start": 144990551
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144990552G>A",
        "CM000670.1:g.144990552G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145062540,
          "referenceAllele": "G",
          "start": 145062539
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145062540G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65362,
          "referenceAllele": "C",
          "start": 65361
        }
      ],
      "hgvs": [
        "NG_012492.1:g.65362C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13575,
          "referenceAllele": "C",
          "start": 13574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.13569C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ser4523="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13530,
          "referenceAllele": "C",
          "start": 13529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.13488C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ser4496="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13488,
          "referenceAllele": "C",
          "start": 13487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.13155C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ser4385="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13381,
          "referenceAllele": "C",
          "start": 13380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.13368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ser4456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13573,
          "referenceAllele": "C",
          "start": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ser4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.13437C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.13437C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ser4479="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ser4479="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10175,
          "referenceAllele": "C",
          "start": 10174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.10137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ser3379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14018,
          "referenceAllele": "C",
          "start": 14017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.13848C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ser4616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13566,
          "referenceAllele": "C",
          "start": 13565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ser4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13505,
          "referenceAllele": "C",
          "start": 13504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ser4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13520,
          "referenceAllele": "C",
          "start": 13519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.13371C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ser4457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13452,
          "referenceAllele": "C",
          "start": 13451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.13395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ser4465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.13395C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.13395C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ser4465="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ser4465="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13458,
          "referenceAllele": "C",
          "start": 13457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.13449C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ser4483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13415,
          "referenceAllele": "C",
          "start": 13414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.13341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ser4447="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13556,
          "referenceAllele": "C",
          "start": 13555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.13518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ser4506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13506,
          "referenceAllele": "C",
          "start": 13505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.13506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ser4502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176868",
      "coordinates": [
        {
          "allele": "T",
          "end": 13567,
          "referenceAllele": "C",
          "start": 13566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.13518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ser4506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481961",
      "coordinates": [
        {
          "allele": "T",
          "end": 13452,
          "referenceAllele": "C",
          "start": 13451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.13395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ser4465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487948",
      "coordinates": [
        {
          "allele": "T",
          "end": 13520,
          "referenceAllele": "C",
          "start": 13519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.13371C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ser4457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489781",
      "coordinates": [
        {
          "allele": "T",
          "end": 14018,
          "referenceAllele": "C",
          "start": 14017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.13848C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ser4616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494338",
      "coordinates": [
        {
          "allele": "T",
          "end": 13415,
          "referenceAllele": "C",
          "start": 13414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.13341C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ser4447="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498974",
      "coordinates": [
        {
          "allele": "T",
          "end": 13505,
          "referenceAllele": "C",
          "start": 13504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ser4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503585",
      "coordinates": [
        {
          "allele": "T",
          "end": 13458,
          "referenceAllele": "C",
          "start": 13457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.13449C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ser4483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508219",
      "coordinates": [
        {
          "allele": "T",
          "end": 13566,
          "referenceAllele": "C",
          "start": 13565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ser4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13966,
          "referenceAllele": "C",
          "start": 13965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.13863C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ser4621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13566,
          "referenceAllele": "C",
          "start": 13565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.13464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ser4488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13509,
          "referenceAllele": "C",
          "start": 13508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.13452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ser4484="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13599,
          "referenceAllele": "C",
          "start": 13598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.13452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ser4484="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13452,
          "referenceAllele": "C",
          "start": 13451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.13410C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ser4470="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13451,
          "referenceAllele": "C",
          "start": 13450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.13386C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ser4462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13383,
          "referenceAllele": "C",
          "start": 13382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.13368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ser4456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13442,
          "referenceAllele": "C",
          "start": 13441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.13356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ser4452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13629,
          "referenceAllele": "C",
          "start": 13628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.13533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ser4511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13398,
          "referenceAllele": "C",
          "start": 13397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.13383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ser4461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13398,
          "referenceAllele": "C",
          "start": 13397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.13383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ser4461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13554,
          "referenceAllele": "C",
          "start": 13553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.13452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ser4484="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13383,
          "referenceAllele": "C",
          "start": 13382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.13368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ser4456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10178,
          "referenceAllele": "C",
          "start": 10177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.10083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ser3361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14059,
          "referenceAllele": "C",
          "start": 14058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.13863C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ser4621="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13585,
          "referenceAllele": "C",
          "start": 13584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.13464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ser4488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13544,
          "referenceAllele": "C",
          "start": 13543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.13452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ser4484="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13629,
          "referenceAllele": "C",
          "start": 13628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.13452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ser4484="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13466,
          "referenceAllele": "C",
          "start": 13465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.13410C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ser4470="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13455,
          "referenceAllele": "C",
          "start": 13454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.13386C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ser4462="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14863,
          "referenceAllele": "C",
          "start": 14862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.13356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ser4452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13637,
          "referenceAllele": "C",
          "start": 13636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.13533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ser4511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13508,
          "referenceAllele": "C",
          "start": 13507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.13383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ser4461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13573,
          "referenceAllele": "C",
          "start": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.13452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ser4484="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13492,
          "referenceAllele": "C",
          "start": 13491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.13368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ser4456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10200,
          "referenceAllele": "C",
          "start": 10199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.10083C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ser3361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176868",
      "coordinates": [
        {
          "allele": "T",
          "end": 13567,
          "referenceAllele": "C",
          "start": 13566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.13518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ser4506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481961",
      "coordinates": [
        {
          "allele": "T",
          "end": 13452,
          "referenceAllele": "C",
          "start": 13451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.13395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ser4465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.13395C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.13395C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ser4465="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ser4465="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487948",
      "coordinates": [
        {
          "allele": "T",
          "end": 13434,
          "referenceAllele": "C",
          "start": 13433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.13371C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ser4457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489781",
      "coordinates": [
        {
          "allele": "T",
          "end": 14068,
          "referenceAllele": "C",
          "start": 14067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.13848C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ser4616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494338",
      "coordinates": [
        {
          "allele": "T",
          "end": 13448,
          "referenceAllele": "C",
          "start": 13447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.13341C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ser4447="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498974",
      "coordinates": [
        {
          "allele": "T",
          "end": 13532,
          "referenceAllele": "C",
          "start": 13531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ser4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503585",
      "coordinates": [
        {
          "allele": "T",
          "end": 13558,
          "referenceAllele": "C",
          "start": 13557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.13449C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ser4483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508219",
      "coordinates": [
        {
          "allele": "T",
          "end": 13573,
          "referenceAllele": "C",
          "start": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.13437C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ser4479="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.13437C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.13437C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ser4479="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ser4479="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}