{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA244424",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.13287C>A (p.Gly4429=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193997[alleleid]",
        "alleleId": 193997,
        "preferredName": "NM_201384.3(PLEC):c.13287C>A (p.Gly4429=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196836",
        "RCV": [
          "RCV000177707",
          "RCV000724724",
          "RCV001430462"
        ],
        "variationId": 196836
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144990702-G-T",
        "id": "8-144990702-G-T",
        "variant": "8:144990702 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144990702G>T?assembly=hg19",
        "id": "chr8:g.144990702G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143916534G>T?assembly=hg38",
        "id": "chr8:g.143916534G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782581005",
        "rs": 782581005
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144990702-G-T?dataset=gnomad_r2_1",
        "id": "8-144990702-G-T",
        "variant": "8:144990702 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143916534-G-T?dataset=gnomad_r3",
        "id": "8-143916534-G-T",
        "variant": "8:143916534 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143916534-G-T?dataset=gnomad_r4",
        "id": "8-143916534-G-T",
        "variant": "8:143916534 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143916534,
          "referenceAllele": "G",
          "start": 143916533
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143916534G>T",
        "CM000670.2:g.143916534G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144990702,
          "referenceAllele": "G",
          "start": 144990701
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144990702G>T",
        "CM000670.1:g.144990702G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145062690,
          "referenceAllele": "G",
          "start": 145062689
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145062690G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65212,
          "referenceAllele": "C",
          "start": 65211
        }
      ],
      "hgvs": [
        "NG_012492.1:g.65212C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13425,
          "referenceAllele": "C",
          "start": 13424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.13419C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Gly4473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13380,
          "referenceAllele": "C",
          "start": 13379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.13338C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Gly4446="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13338,
          "referenceAllele": "C",
          "start": 13337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.13005C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Gly4335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13231,
          "referenceAllele": "C",
          "start": 13230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.13218C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Gly4406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13423,
          "referenceAllele": "C",
          "start": 13422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.13287C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Gly4429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.13287C>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.13287C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Gly4429="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Gly4429="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10025,
          "referenceAllele": "C",
          "start": 10024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.9987C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Gly3329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13868,
          "referenceAllele": "C",
          "start": 13867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.13698C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Gly4566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13416,
          "referenceAllele": "C",
          "start": 13415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.13287C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Gly4429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13355,
          "referenceAllele": "C",
          "start": 13354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.13287C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Gly4429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13370,
          "referenceAllele": "C",
          "start": 13369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.13221C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Gly4407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13302,
          "referenceAllele": "C",
          "start": 13301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.13245C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Gly4415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.13245C>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.13245C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Gly4415="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Gly4415="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13308,
          "referenceAllele": "C",
          "start": 13307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.13299C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Gly4433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13265,
          "referenceAllele": "C",
          "start": 13264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.13191C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Gly4397="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13406,
          "referenceAllele": "C",
          "start": 13405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.13368C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Gly4456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13356,
          "referenceAllele": "C",
          "start": 13355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.13356C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Gly4452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176830",
      "coordinates": [
        {
          "allele": "A",
          "end": 13417,
          "referenceAllele": "C",
          "start": 13416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.13368C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Gly4456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481916",
      "coordinates": [
        {
          "allele": "A",
          "end": 13302,
          "referenceAllele": "C",
          "start": 13301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.13245C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Gly4415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487910",
      "coordinates": [
        {
          "allele": "A",
          "end": 13370,
          "referenceAllele": "C",
          "start": 13369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.13221C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Gly4407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489761",
      "coordinates": [
        {
          "allele": "A",
          "end": 13868,
          "referenceAllele": "C",
          "start": 13867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.13698C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Gly4566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494300",
      "coordinates": [
        {
          "allele": "A",
          "end": 13265,
          "referenceAllele": "C",
          "start": 13264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.13191C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Gly4397="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498936",
      "coordinates": [
        {
          "allele": "A",
          "end": 13355,
          "referenceAllele": "C",
          "start": 13354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.13287C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Gly4429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503547",
      "coordinates": [
        {
          "allele": "A",
          "end": 13308,
          "referenceAllele": "C",
          "start": 13307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.13299C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Gly4433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508181",
      "coordinates": [
        {
          "allele": "A",
          "end": 13416,
          "referenceAllele": "C",
          "start": 13415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.13287C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Gly4429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13816,
          "referenceAllele": "C",
          "start": 13815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.13713C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Gly4571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13416,
          "referenceAllele": "C",
          "start": 13415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.13314C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Gly4438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13359,
          "referenceAllele": "C",
          "start": 13358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.13302C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Gly4434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13449,
          "referenceAllele": "C",
          "start": 13448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.13302C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Gly4434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13302,
          "referenceAllele": "C",
          "start": 13301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.13260C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Gly4420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13301,
          "referenceAllele": "C",
          "start": 13300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.13236C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Gly4412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13233,
          "referenceAllele": "C",
          "start": 13232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.13218C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Gly4406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13292,
          "referenceAllele": "C",
          "start": 13291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.13206C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Gly4402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13479,
          "referenceAllele": "C",
          "start": 13478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.13383C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Gly4461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13248,
          "referenceAllele": "C",
          "start": 13247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.13233C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Gly4411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13248,
          "referenceAllele": "C",
          "start": 13247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.13233C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Gly4411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13404,
          "referenceAllele": "C",
          "start": 13403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.13302C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Gly4434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13233,
          "referenceAllele": "C",
          "start": 13232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.13218C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Gly4406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10028,
          "referenceAllele": "C",
          "start": 10027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.9933C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Gly3311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13909,
          "referenceAllele": "C",
          "start": 13908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.13713C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Gly4571="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13435,
          "referenceAllele": "C",
          "start": 13434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.13314C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Gly4438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13394,
          "referenceAllele": "C",
          "start": 13393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.13302C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Gly4434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13479,
          "referenceAllele": "C",
          "start": 13478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.13302C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Gly4434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13316,
          "referenceAllele": "C",
          "start": 13315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.13260C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Gly4420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13305,
          "referenceAllele": "C",
          "start": 13304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.13236C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Gly4412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14713,
          "referenceAllele": "C",
          "start": 14712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.13206C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Gly4402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13487,
          "referenceAllele": "C",
          "start": 13486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.13383C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Gly4461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13358,
          "referenceAllele": "C",
          "start": 13357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.13233C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Gly4411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13423,
          "referenceAllele": "C",
          "start": 13422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.13302C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Gly4434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13342,
          "referenceAllele": "C",
          "start": 13341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.13218C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Gly4406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10050,
          "referenceAllele": "C",
          "start": 10049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.9933C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Gly3311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176830",
      "coordinates": [
        {
          "allele": "A",
          "end": 13417,
          "referenceAllele": "C",
          "start": 13416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.13368C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Gly4456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481916",
      "coordinates": [
        {
          "allele": "A",
          "end": 13302,
          "referenceAllele": "C",
          "start": 13301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.13245C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Gly4415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.13245C>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.13245C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Gly4415="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Gly4415="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487910",
      "coordinates": [
        {
          "allele": "A",
          "end": 13284,
          "referenceAllele": "C",
          "start": 13283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.13221C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Gly4407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489761",
      "coordinates": [
        {
          "allele": "A",
          "end": 13918,
          "referenceAllele": "C",
          "start": 13917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.13698C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Gly4566="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494300",
      "coordinates": [
        {
          "allele": "A",
          "end": 13298,
          "referenceAllele": "C",
          "start": 13297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.13191C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Gly4397="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498936",
      "coordinates": [
        {
          "allele": "A",
          "end": 13382,
          "referenceAllele": "C",
          "start": 13381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.13287C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Gly4429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503547",
      "coordinates": [
        {
          "allele": "A",
          "end": 13408,
          "referenceAllele": "C",
          "start": 13407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.13299C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Gly4433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508181",
      "coordinates": [
        {
          "allele": "A",
          "end": 13423,
          "referenceAllele": "C",
          "start": 13422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.13287C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Gly4429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.13287C>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.13287C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Gly4429="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Gly4429="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}