{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4925397",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.8202G>A (p.Ala2734=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=501938[alleleid]",
        "alleleId": 501938,
        "preferredName": "NM_201384.3(PLEC):c.8202G>A (p.Ala2734=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/510648",
        "RCV": [
          "RCV000610298",
          "RCV000732804",
          "RCV002063908"
        ],
        "variationId": 510648
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144995787-C-T",
        "id": "8-144995787-C-T",
        "variant": "8:144995787 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144995787C>T?assembly=hg19",
        "id": "chr8:g.144995787C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143921619C>T?assembly=hg38",
        "id": "chr8:g.143921619C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782252692",
        "rs": 782252692
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144995787-C-T?dataset=gnomad_r2_1",
        "id": "8-144995787-C-T",
        "variant": "8:144995787 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143921619-C-T?dataset=gnomad_r3",
        "id": "8-143921619-C-T",
        "variant": "8:143921619 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143921619-C-T?dataset=gnomad_r4",
        "id": "8-143921619-C-T",
        "variant": "8:143921619 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143921619,
          "referenceAllele": "C",
          "start": 143921618
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143921619C>T",
        "CM000670.2:g.143921619C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144995787,
          "referenceAllele": "C",
          "start": 144995786
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144995787C>T",
        "CM000670.1:g.144995787C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145067775,
          "referenceAllele": "C",
          "start": 145067774
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145067775C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60127,
          "referenceAllele": "G",
          "start": 60126
        }
      ],
      "hgvs": [
        "NG_012492.1:g.60127G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8340,
          "referenceAllele": "G",
          "start": 8339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.8334G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ala2778="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8295,
          "referenceAllele": "G",
          "start": 8294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.8253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ala2751="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8253,
          "referenceAllele": "G",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.7920G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ala2640="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8146,
          "referenceAllele": "G",
          "start": 8145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.8133G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ala2711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8338,
          "referenceAllele": "G",
          "start": 8337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.8202G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala2734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.8202G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.8202G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala2734="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala2734="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4940,
          "referenceAllele": "G",
          "start": 4939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4902G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Ala1634="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8783,
          "referenceAllele": "G",
          "start": 8782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.8613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ala2871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8331,
          "referenceAllele": "G",
          "start": 8330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.8202G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala2734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8270,
          "referenceAllele": "G",
          "start": 8269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.8202G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ala2734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8285,
          "referenceAllele": "G",
          "start": 8284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.8136G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ala2712="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8217,
          "referenceAllele": "G",
          "start": 8216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.8160G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ala2720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.8160G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.8160G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala2720="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala2720="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8223,
          "referenceAllele": "G",
          "start": 8222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.8214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ala2738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8180,
          "referenceAllele": "G",
          "start": 8179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.8106G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ala2702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8321,
          "referenceAllele": "G",
          "start": 8320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.8283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ala2761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8271,
          "referenceAllele": "G",
          "start": 8270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.8271G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ala2757="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175135",
      "coordinates": [
        {
          "allele": "A",
          "end": 8332,
          "referenceAllele": "G",
          "start": 8331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.8283G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala2761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479458",
      "coordinates": [
        {
          "allele": "A",
          "end": 8217,
          "referenceAllele": "G",
          "start": 8216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.8160G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala2720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486215",
      "coordinates": [
        {
          "allele": "A",
          "end": 8285,
          "referenceAllele": "G",
          "start": 8284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.8136G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala2712="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489133",
      "coordinates": [
        {
          "allele": "A",
          "end": 8783,
          "referenceAllele": "G",
          "start": 8782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.8613G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala2871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492605",
      "coordinates": [
        {
          "allele": "A",
          "end": 8180,
          "referenceAllele": "G",
          "start": 8179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.8106G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala2702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497241",
      "coordinates": [
        {
          "allele": "A",
          "end": 8270,
          "referenceAllele": "G",
          "start": 8269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.8202G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala2734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501852",
      "coordinates": [
        {
          "allele": "A",
          "end": 8223,
          "referenceAllele": "G",
          "start": 8222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.8214G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala2738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506486",
      "coordinates": [
        {
          "allele": "A",
          "end": 8331,
          "referenceAllele": "G",
          "start": 8330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.8202G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala2734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8731,
          "referenceAllele": "G",
          "start": 8730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.8628G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala2876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8331,
          "referenceAllele": "G",
          "start": 8330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.8229G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala2743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8274,
          "referenceAllele": "G",
          "start": 8273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.8217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala2739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8364,
          "referenceAllele": "G",
          "start": 8363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.8217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala2739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8217,
          "referenceAllele": "G",
          "start": 8216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.8175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala2725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8216,
          "referenceAllele": "G",
          "start": 8215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.8151G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala2717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8148,
          "referenceAllele": "G",
          "start": 8147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.8133G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ala2711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8207,
          "referenceAllele": "G",
          "start": 8206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.8121G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala2707="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8394,
          "referenceAllele": "G",
          "start": 8393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.8298G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala2766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8163,
          "referenceAllele": "G",
          "start": 8162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.8148G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ala2716="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8163,
          "referenceAllele": "G",
          "start": 8162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.8148G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala2716="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8319,
          "referenceAllele": "G",
          "start": 8318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.8217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala2739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8148,
          "referenceAllele": "G",
          "start": 8147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.8133G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala2711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4943,
          "referenceAllele": "G",
          "start": 4942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4848G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala1616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8824,
          "referenceAllele": "G",
          "start": 8823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.8628G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala2876="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8350,
          "referenceAllele": "G",
          "start": 8349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.8229G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala2743="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8309,
          "referenceAllele": "G",
          "start": 8308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.8217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala2739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8394,
          "referenceAllele": "G",
          "start": 8393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.8217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala2739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8231,
          "referenceAllele": "G",
          "start": 8230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.8175G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala2725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8220,
          "referenceAllele": "G",
          "start": 8219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.8151G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala2717="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9628,
          "referenceAllele": "G",
          "start": 9627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.8121G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala2707="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8402,
          "referenceAllele": "G",
          "start": 8401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.8298G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala2766="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8273,
          "referenceAllele": "G",
          "start": 8272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.8148G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala2716="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8338,
          "referenceAllele": "G",
          "start": 8337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.8217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala2739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8257,
          "referenceAllele": "G",
          "start": 8256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.8133G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala2711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4965,
          "referenceAllele": "G",
          "start": 4964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4848G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Ala1616="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175135",
      "coordinates": [
        {
          "allele": "A",
          "end": 8332,
          "referenceAllele": "G",
          "start": 8331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.8283G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala2761="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479458",
      "coordinates": [
        {
          "allele": "A",
          "end": 8217,
          "referenceAllele": "G",
          "start": 8216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.8160G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala2720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.8160G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.8160G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala2720="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala2720="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486215",
      "coordinates": [
        {
          "allele": "A",
          "end": 8199,
          "referenceAllele": "G",
          "start": 8198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.8136G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala2712="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489133",
      "coordinates": [
        {
          "allele": "A",
          "end": 8833,
          "referenceAllele": "G",
          "start": 8832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.8613G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala2871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492605",
      "coordinates": [
        {
          "allele": "A",
          "end": 8213,
          "referenceAllele": "G",
          "start": 8212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.8106G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala2702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497241",
      "coordinates": [
        {
          "allele": "A",
          "end": 8297,
          "referenceAllele": "G",
          "start": 8296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.8202G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala2734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501852",
      "coordinates": [
        {
          "allele": "A",
          "end": 8323,
          "referenceAllele": "G",
          "start": 8322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.8214G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala2738="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506486",
      "coordinates": [
        {
          "allele": "A",
          "end": 8338,
          "referenceAllele": "G",
          "start": 8337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.8202G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala2734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.8202G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.8202G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala2734="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala2734="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}