{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4923911",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.13077C>T (p.Phe4359=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5408991",
        "active": true,
        "id": "COSM5408991"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5408992",
        "active": true,
        "id": "COSM5408992"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5408993",
        "active": true,
        "id": "COSM5408993"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5408994",
        "active": true,
        "id": "COSM5408994"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5408995",
        "active": true,
        "id": "COSM5408995"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5408996",
        "active": true,
        "id": "COSM5408996"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5408997",
        "active": true,
        "id": "COSM5408997"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492158[alleleid]",
        "alleleId": 492158,
        "preferredName": "NM_201384.3(PLEC):c.13077C>T (p.Phe4359=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/500734",
        "RCV": [
          "RCV000597666",
          "RCV001435368"
        ],
        "variationId": 500734
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144990912-G-A",
        "id": "8-144990912-G-A",
        "variant": "8:144990912 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144990912G>A?assembly=hg19",
        "id": "chr8:g.144990912G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143916744G>A?assembly=hg38",
        "id": "chr8:g.143916744G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782380080",
        "rs": 782380080
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144990912-G-A?dataset=gnomad_r2_1",
        "id": "8-144990912-G-A",
        "variant": "8:144990912 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143916744-G-A?dataset=gnomad_r3",
        "id": "8-143916744-G-A",
        "variant": "8:143916744 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143916744-G-A?dataset=gnomad_r4",
        "id": "8-143916744-G-A",
        "variant": "8:143916744 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143916744,
          "referenceAllele": "G",
          "start": 143916743
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143916744G>A",
        "CM000670.2:g.143916744G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144990912,
          "referenceAllele": "G",
          "start": 144990911
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144990912G>A",
        "CM000670.1:g.144990912G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145062900,
          "referenceAllele": "G",
          "start": 145062899
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145062900G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65002,
          "referenceAllele": "C",
          "start": 65001
        }
      ],
      "hgvs": [
        "NG_012492.1:g.65002C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13215,
          "referenceAllele": "C",
          "start": 13214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.13209C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Phe4403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13170,
          "referenceAllele": "C",
          "start": 13169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.13128C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Phe4376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13128,
          "referenceAllele": "C",
          "start": 13127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.12795C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Phe4265="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13021,
          "referenceAllele": "C",
          "start": 13020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.13008C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Phe4336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13213,
          "referenceAllele": "C",
          "start": 13212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.13077C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Phe4359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.13077C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.13077C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Phe4359="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Phe4359="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9815,
          "referenceAllele": "C",
          "start": 9814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.9777C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Phe3259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13658,
          "referenceAllele": "C",
          "start": 13657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.13488C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Phe4496="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13206,
          "referenceAllele": "C",
          "start": 13205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.13077C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Phe4359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13145,
          "referenceAllele": "C",
          "start": 13144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.13077C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Phe4359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13160,
          "referenceAllele": "C",
          "start": 13159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.13011C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Phe4337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13092,
          "referenceAllele": "C",
          "start": 13091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.13035C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Phe4345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.13035C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.13035C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Phe4345="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Phe4345="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13098,
          "referenceAllele": "C",
          "start": 13097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.13089C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Phe4363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13055,
          "referenceAllele": "C",
          "start": 13054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.12981C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Phe4327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13196,
          "referenceAllele": "C",
          "start": 13195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.13158C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Phe4386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13146,
          "referenceAllele": "C",
          "start": 13145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.13146C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Phe4382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176761",
      "coordinates": [
        {
          "allele": "T",
          "end": 13207,
          "referenceAllele": "C",
          "start": 13206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.13158C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Phe4386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481791",
      "coordinates": [
        {
          "allele": "T",
          "end": 13092,
          "referenceAllele": "C",
          "start": 13091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.13035C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Phe4345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487841",
      "coordinates": [
        {
          "allele": "T",
          "end": 13160,
          "referenceAllele": "C",
          "start": 13159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.13011C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Phe4337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489737",
      "coordinates": [
        {
          "allele": "T",
          "end": 13658,
          "referenceAllele": "C",
          "start": 13657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.13488C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Phe4496="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494231",
      "coordinates": [
        {
          "allele": "T",
          "end": 13055,
          "referenceAllele": "C",
          "start": 13054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.12981C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Phe4327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498867",
      "coordinates": [
        {
          "allele": "T",
          "end": 13145,
          "referenceAllele": "C",
          "start": 13144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.13077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Phe4359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503478",
      "coordinates": [
        {
          "allele": "T",
          "end": 13098,
          "referenceAllele": "C",
          "start": 13097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.13089C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Phe4363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508112",
      "coordinates": [
        {
          "allele": "T",
          "end": 13206,
          "referenceAllele": "C",
          "start": 13205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.13077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Phe4359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13606,
          "referenceAllele": "C",
          "start": 13605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.13503C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Phe4501="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13206,
          "referenceAllele": "C",
          "start": 13205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.13104C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Phe4368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13149,
          "referenceAllele": "C",
          "start": 13148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.13092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Phe4364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13239,
          "referenceAllele": "C",
          "start": 13238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.13092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Phe4364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13092,
          "referenceAllele": "C",
          "start": 13091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.13050C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Phe4350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13091,
          "referenceAllele": "C",
          "start": 13090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.13026C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Phe4342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13023,
          "referenceAllele": "C",
          "start": 13022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.13008C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Phe4336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13082,
          "referenceAllele": "C",
          "start": 13081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.12996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Phe4332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13269,
          "referenceAllele": "C",
          "start": 13268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.13173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Phe4391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13038,
          "referenceAllele": "C",
          "start": 13037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.13023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Phe4341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13038,
          "referenceAllele": "C",
          "start": 13037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.13023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Phe4341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13194,
          "referenceAllele": "C",
          "start": 13193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.13092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Phe4364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13023,
          "referenceAllele": "C",
          "start": 13022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.13008C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Phe4336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9818,
          "referenceAllele": "C",
          "start": 9817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.9723C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Phe3241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13699,
          "referenceAllele": "C",
          "start": 13698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.13503C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Phe4501="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13225,
          "referenceAllele": "C",
          "start": 13224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.13104C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Phe4368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13184,
          "referenceAllele": "C",
          "start": 13183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.13092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Phe4364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13269,
          "referenceAllele": "C",
          "start": 13268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.13092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Phe4364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13106,
          "referenceAllele": "C",
          "start": 13105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.13050C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Phe4350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13095,
          "referenceAllele": "C",
          "start": 13094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.13026C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Phe4342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14503,
          "referenceAllele": "C",
          "start": 14502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.12996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Phe4332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13277,
          "referenceAllele": "C",
          "start": 13276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.13173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Phe4391="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13148,
          "referenceAllele": "C",
          "start": 13147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.13023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Phe4341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13213,
          "referenceAllele": "C",
          "start": 13212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.13092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Phe4364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13132,
          "referenceAllele": "C",
          "start": 13131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.13008C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Phe4336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9840,
          "referenceAllele": "C",
          "start": 9839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.9723C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Phe3241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176761",
      "coordinates": [
        {
          "allele": "T",
          "end": 13207,
          "referenceAllele": "C",
          "start": 13206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.13158C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Phe4386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481791",
      "coordinates": [
        {
          "allele": "T",
          "end": 13092,
          "referenceAllele": "C",
          "start": 13091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.13035C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Phe4345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.13035C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.13035C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Phe4345="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Phe4345="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487841",
      "coordinates": [
        {
          "allele": "T",
          "end": 13074,
          "referenceAllele": "C",
          "start": 13073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.13011C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Phe4337="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489737",
      "coordinates": [
        {
          "allele": "T",
          "end": 13708,
          "referenceAllele": "C",
          "start": 13707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.13488C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Phe4496="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494231",
      "coordinates": [
        {
          "allele": "T",
          "end": 13088,
          "referenceAllele": "C",
          "start": 13087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.12981C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Phe4327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498867",
      "coordinates": [
        {
          "allele": "T",
          "end": 13172,
          "referenceAllele": "C",
          "start": 13171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.13077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Phe4359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503478",
      "coordinates": [
        {
          "allele": "T",
          "end": 13198,
          "referenceAllele": "C",
          "start": 13197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.13089C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Phe4363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508112",
      "coordinates": [
        {
          "allele": "T",
          "end": 13213,
          "referenceAllele": "C",
          "start": 13212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.13077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Phe4359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.13077C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.13077C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Phe4359="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Phe4359="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}