{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4923980",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266357[alleleid]",
        "alleleId": 266357,
        "preferredName": "NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282120",
        "RCV": [
          "RCV000290169",
          "RCV001086872",
          "RCV004535273"
        ],
        "variationId": 282120
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144991206-G-A",
        "id": "8-144991206-G-A",
        "variant": "8:144991206 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144991206G>A?assembly=hg19",
        "id": "chr8:g.144991206G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143917038G>A?assembly=hg38",
        "id": "chr8:g.143917038G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377524932",
        "rs": 377524932
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144991206-G-A?dataset=gnomad_r2_1",
        "id": "8-144991206-G-A",
        "variant": "8:144991206 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143917038-G-A?dataset=gnomad_r3",
        "id": "8-143917038-G-A",
        "variant": "8:143917038 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143917038-G-A?dataset=gnomad_r4",
        "id": "8-143917038-G-A",
        "variant": "8:143917038 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143917038,
          "referenceAllele": "G",
          "start": 143917037
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143917038G>A",
        "CM000670.2:g.143917038G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144991206,
          "referenceAllele": "G",
          "start": 144991205
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144991206G>A",
        "CM000670.1:g.144991206G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145063194,
          "referenceAllele": "G",
          "start": 145063193
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145063194G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64708,
          "referenceAllele": "C",
          "start": 64707
        }
      ],
      "hgvs": [
        "NG_012492.1:g.64708C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12921,
          "referenceAllele": "C",
          "start": 12920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.12915C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ala4305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12876,
          "referenceAllele": "C",
          "start": 12875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.12834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ala4278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12834,
          "referenceAllele": "C",
          "start": 12833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.12501C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ala4167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12727,
          "referenceAllele": "C",
          "start": 12726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.12714C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ala4238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12919,
          "referenceAllele": "C",
          "start": 12918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.12783C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala4261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.12783C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.12783C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala4261="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala4261="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9521,
          "referenceAllele": "C",
          "start": 9520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.9483C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ala3161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13364,
          "referenceAllele": "C",
          "start": 13363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.13194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ala4398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12912,
          "referenceAllele": "C",
          "start": 12911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.12783C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala4261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12851,
          "referenceAllele": "C",
          "start": 12850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.12783C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ala4261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12866,
          "referenceAllele": "C",
          "start": 12865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.12717C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ala4239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12798,
          "referenceAllele": "C",
          "start": 12797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.12741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ala4247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.12741C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.12741C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala4247="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala4247="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12804,
          "referenceAllele": "C",
          "start": 12803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.12795C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ala4265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12761,
          "referenceAllele": "C",
          "start": 12760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.12687C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ala4229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12902,
          "referenceAllele": "C",
          "start": 12901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.12864C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ala4288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12852,
          "referenceAllele": "C",
          "start": 12851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.12852C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ala4284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176680",
      "coordinates": [
        {
          "allele": "T",
          "end": 12913,
          "referenceAllele": "C",
          "start": 12912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.12864C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala4288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481614",
      "coordinates": [
        {
          "allele": "T",
          "end": 12798,
          "referenceAllele": "C",
          "start": 12797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.12741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala4247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487759",
      "coordinates": [
        {
          "allele": "T",
          "end": 12866,
          "referenceAllele": "C",
          "start": 12865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.12717C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala4239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489703",
      "coordinates": [
        {
          "allele": "T",
          "end": 13364,
          "referenceAllele": "C",
          "start": 13363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.13194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala4398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494150",
      "coordinates": [
        {
          "allele": "T",
          "end": 12761,
          "referenceAllele": "C",
          "start": 12760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.12687C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala4229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498786",
      "coordinates": [
        {
          "allele": "T",
          "end": 12851,
          "referenceAllele": "C",
          "start": 12850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.12783C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala4261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503397",
      "coordinates": [
        {
          "allele": "T",
          "end": 12804,
          "referenceAllele": "C",
          "start": 12803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.12795C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala4265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508031",
      "coordinates": [
        {
          "allele": "T",
          "end": 12912,
          "referenceAllele": "C",
          "start": 12911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.12783C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala4261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13312,
          "referenceAllele": "C",
          "start": 13311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.13209C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala4403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12912,
          "referenceAllele": "C",
          "start": 12911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.12810C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala4270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12855,
          "referenceAllele": "C",
          "start": 12854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.12798C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala4266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12945,
          "referenceAllele": "C",
          "start": 12944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.12798C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala4266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12798,
          "referenceAllele": "C",
          "start": 12797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.12756C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala4252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12797,
          "referenceAllele": "C",
          "start": 12796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.12732C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala4244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12729,
          "referenceAllele": "C",
          "start": 12728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.12714C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ala4238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12788,
          "referenceAllele": "C",
          "start": 12787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.12702C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala4234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12975,
          "referenceAllele": "C",
          "start": 12974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.12879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala4293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12744,
          "referenceAllele": "C",
          "start": 12743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.12729C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ala4243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12744,
          "referenceAllele": "C",
          "start": 12743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.12729C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala4243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12900,
          "referenceAllele": "C",
          "start": 12899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.12798C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala4266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12729,
          "referenceAllele": "C",
          "start": 12728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.12714C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala4238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9524,
          "referenceAllele": "C",
          "start": 9523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.9429C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13405,
          "referenceAllele": "C",
          "start": 13404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.13209C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala4403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12931,
          "referenceAllele": "C",
          "start": 12930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.12810C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala4270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12890,
          "referenceAllele": "C",
          "start": 12889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.12798C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala4266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12975,
          "referenceAllele": "C",
          "start": 12974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.12798C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala4266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12812,
          "referenceAllele": "C",
          "start": 12811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.12756C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala4252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12801,
          "referenceAllele": "C",
          "start": 12800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.12732C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala4244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14209,
          "referenceAllele": "C",
          "start": 14208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.12702C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala4234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12983,
          "referenceAllele": "C",
          "start": 12982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.12879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala4293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12854,
          "referenceAllele": "C",
          "start": 12853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.12729C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala4243="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12919,
          "referenceAllele": "C",
          "start": 12918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.12798C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala4266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12838,
          "referenceAllele": "C",
          "start": 12837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.12714C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala4238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9546,
          "referenceAllele": "C",
          "start": 9545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.9429C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176680",
      "coordinates": [
        {
          "allele": "T",
          "end": 12913,
          "referenceAllele": "C",
          "start": 12912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.12864C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala4288="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481614",
      "coordinates": [
        {
          "allele": "T",
          "end": 12798,
          "referenceAllele": "C",
          "start": 12797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.12741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala4247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.12741C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.12741C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala4247="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala4247="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487759",
      "coordinates": [
        {
          "allele": "T",
          "end": 12780,
          "referenceAllele": "C",
          "start": 12779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.12717C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala4239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489703",
      "coordinates": [
        {
          "allele": "T",
          "end": 13414,
          "referenceAllele": "C",
          "start": 13413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.13194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala4398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494150",
      "coordinates": [
        {
          "allele": "T",
          "end": 12794,
          "referenceAllele": "C",
          "start": 12793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.12687C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala4229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498786",
      "coordinates": [
        {
          "allele": "T",
          "end": 12878,
          "referenceAllele": "C",
          "start": 12877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.12783C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala4261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503397",
      "coordinates": [
        {
          "allele": "T",
          "end": 12904,
          "referenceAllele": "C",
          "start": 12903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.12795C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala4265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508031",
      "coordinates": [
        {
          "allele": "T",
          "end": 12919,
          "referenceAllele": "C",
          "start": 12918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.12783C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala4261="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.12783C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.12783C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala4261="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala4261="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}