{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4927107",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.3369G>A (p.Pro1123=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584023[alleleid]",
        "alleleId": 584023,
        "preferredName": "NM_201384.3(PLEC):c.3369G>A (p.Pro1123=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/592959",
        "RCV": [
          "RCV000727855",
          "RCV001089261"
        ],
        "variationId": 592959
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145002052-C-T",
        "id": "8-145002052-C-T",
        "variant": "8:145002052 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145002052C>T?assembly=hg19",
        "id": "chr8:g.145002052C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143927884C>T?assembly=hg38",
        "id": "chr8:g.143927884C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371882486",
        "rs": 371882486
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145002052-C-T?dataset=gnomad_r2_1",
        "id": "8-145002052-C-T",
        "variant": "8:145002052 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143927884-C-T?dataset=gnomad_r3",
        "id": "8-143927884-C-T",
        "variant": "8:143927884 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143927884-C-T?dataset=gnomad_r4",
        "id": "8-143927884-C-T",
        "variant": "8:143927884 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143927884,
          "referenceAllele": "C",
          "start": 143927883
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143927884C>T",
        "CM000670.2:g.143927884C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145002052,
          "referenceAllele": "C",
          "start": 145002051
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145002052C>T",
        "CM000670.1:g.145002052C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145074040,
          "referenceAllele": "C",
          "start": 145074039
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145074040C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53862,
          "referenceAllele": "G",
          "start": 53861
        }
      ],
      "hgvs": [
        "NG_012492.1:g.53862G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3507,
          "referenceAllele": "G",
          "start": 3506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.3501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Pro1167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3462,
          "referenceAllele": "G",
          "start": 3461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.3420G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Pro1140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3420,
          "referenceAllele": "G",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.3087G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Pro1029="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3313,
          "referenceAllele": "G",
          "start": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.3300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.3369G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro1123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.3369G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.3369G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro1123="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro1123="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.3450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Pro1150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3950,
          "referenceAllele": "G",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.3780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Pro1260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3498,
          "referenceAllele": "G",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.3369G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro1123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3437,
          "referenceAllele": "G",
          "start": 3436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.3369G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Pro1123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3452,
          "referenceAllele": "G",
          "start": 3451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.3303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Pro1101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3384,
          "referenceAllele": "G",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.3327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Pro1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.3327G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.3327G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro1109="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro1109="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3390,
          "referenceAllele": "G",
          "start": 3389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.3381G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Pro1127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.3273G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Pro1091="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3488,
          "referenceAllele": "G",
          "start": 3487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.3450G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Pro1150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3438,
          "referenceAllele": "G",
          "start": 3437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.3438G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Pro1146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173265",
      "coordinates": [
        {
          "allele": "A",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.3450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro1150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476463",
      "coordinates": [
        {
          "allele": "A",
          "end": 3384,
          "referenceAllele": "G",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.3327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483509",
      "coordinates": [
        {
          "allele": "A",
          "end": 3452,
          "referenceAllele": "G",
          "start": 3451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.3303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro1101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488534",
      "coordinates": [
        {
          "allele": "A",
          "end": 3950,
          "referenceAllele": "G",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.3780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro1260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490734",
      "coordinates": [
        {
          "allele": "A",
          "end": 3347,
          "referenceAllele": "G",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.3273G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro1091="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495371",
      "coordinates": [
        {
          "allele": "A",
          "end": 3437,
          "referenceAllele": "G",
          "start": 3436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.3369G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro1123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499981",
      "coordinates": [
        {
          "allele": "A",
          "end": 3390,
          "referenceAllele": "G",
          "start": 3389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.3381G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro1127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504615",
      "coordinates": [
        {
          "allele": "A",
          "end": 3498,
          "referenceAllele": "G",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.3369G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro1123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3898,
          "referenceAllele": "G",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.3795G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro1265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3498,
          "referenceAllele": "G",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.3396G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3441,
          "referenceAllele": "G",
          "start": 3440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.3384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro1128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3531,
          "referenceAllele": "G",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.3384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro1128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3384,
          "referenceAllele": "G",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.3342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro1114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3383,
          "referenceAllele": "G",
          "start": 3382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.3318G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro1106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3315,
          "referenceAllele": "G",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.3300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3374,
          "referenceAllele": "G",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.3288G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro1096="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3561,
          "referenceAllele": "G",
          "start": 3560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.3465G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro1155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3330,
          "referenceAllele": "G",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.3315G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Pro1105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3330,
          "referenceAllele": "G",
          "start": 3329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.3315G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro1105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3486,
          "referenceAllele": "G",
          "start": 3485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.3384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro1128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3315,
          "referenceAllele": "G",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.3300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3491,
          "referenceAllele": "G",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.3396G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3991,
          "referenceAllele": "G",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.3795G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro1265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3517,
          "referenceAllele": "G",
          "start": 3516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.3396G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3476,
          "referenceAllele": "G",
          "start": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.3384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro1128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3561,
          "referenceAllele": "G",
          "start": 3560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.3384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro1128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "referenceAllele": "G",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.3342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro1114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3387,
          "referenceAllele": "G",
          "start": 3386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.3318G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro1106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4795,
          "referenceAllele": "G",
          "start": 4794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.3288G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro1096="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3569,
          "referenceAllele": "G",
          "start": 3568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.3465G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro1155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3440,
          "referenceAllele": "G",
          "start": 3439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.3315G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro1105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.3384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro1128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3424,
          "referenceAllele": "G",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.3300G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3513,
          "referenceAllele": "G",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.3396G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173265",
      "coordinates": [
        {
          "allele": "A",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.3450G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro1150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476463",
      "coordinates": [
        {
          "allele": "A",
          "end": 3384,
          "referenceAllele": "G",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.3327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro1109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.3327G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.3327G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro1109="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro1109="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483509",
      "coordinates": [
        {
          "allele": "A",
          "end": 3366,
          "referenceAllele": "G",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.3303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro1101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488534",
      "coordinates": [
        {
          "allele": "A",
          "end": 4000,
          "referenceAllele": "G",
          "start": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.3780G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro1260="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490734",
      "coordinates": [
        {
          "allele": "A",
          "end": 3380,
          "referenceAllele": "G",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.3273G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro1091="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495371",
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.3369G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro1123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499981",
      "coordinates": [
        {
          "allele": "A",
          "end": 3490,
          "referenceAllele": "G",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.3381G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro1127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504615",
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.3369G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro1123="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.3369G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.3369G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro1123="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro1123="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}