{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA463535213",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.3963G>A (p.Thr1321=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493160[alleleid]",
        "alleleId": 493160,
        "preferredName": "NM_201384.3(PLEC):c.3963G>A (p.Thr1321=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501736",
        "RCV": [
          "RCV000593191",
          "RCV001427859"
        ],
        "variationId": 501736
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145001033C>T?assembly=hg19",
        "id": "chr8:g.145001033C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143926865C>T?assembly=hg38",
        "id": "chr8:g.143926865C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1405843505",
        "rs": 1405843505
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145001033-C-T?dataset=gnomad_r2_1",
        "id": "8-145001033-C-T",
        "variant": "8:145001033 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143926865-C-T?dataset=gnomad_r3",
        "id": "8-143926865-C-T",
        "variant": "8:143926865 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143926865-C-T?dataset=gnomad_r4",
        "id": "8-143926865-C-T",
        "variant": "8:143926865 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143926865,
          "referenceAllele": "C",
          "start": 143926864
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143926865C>T",
        "CM000670.2:g.143926865C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145001033,
          "referenceAllele": "C",
          "start": 145001032
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145001033C>T",
        "CM000670.1:g.145001033C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145073021,
          "referenceAllele": "C",
          "start": 145073020
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145073021C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54881,
          "referenceAllele": "G",
          "start": 54880
        }
      ],
      "hgvs": [
        "NG_012492.1:g.54881G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4101,
          "referenceAllele": "G",
          "start": 4100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.4095G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Thr1365="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4056,
          "referenceAllele": "G",
          "start": 4055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.4014G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Thr1338="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4014,
          "referenceAllele": "G",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.3681G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Thr1227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3907,
          "referenceAllele": "G",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.3894G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Thr1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4099,
          "referenceAllele": "G",
          "start": 4098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.3963G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr1321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.3963G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.3963G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr1321="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr1321="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4082,
          "referenceAllele": "G",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Thr1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4544,
          "referenceAllele": "G",
          "start": 4543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.4374G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Thr1458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4092,
          "referenceAllele": "G",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.3963G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Thr1321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.3963G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Thr1321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4046,
          "referenceAllele": "G",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.3897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Thr1299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3978,
          "referenceAllele": "G",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.3921G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Thr1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.3921G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.3921G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr1307="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr1307="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3984,
          "referenceAllele": "G",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.3975G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Thr1325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3941,
          "referenceAllele": "G",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.3867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Thr1289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4082,
          "referenceAllele": "G",
          "start": 4081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Thr1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4032,
          "referenceAllele": "G",
          "start": 4031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.4032G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Thr1344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "G",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.53G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173472",
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476755",
      "coordinates": [
        {
          "allele": "A",
          "end": 3978,
          "referenceAllele": "G",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.3921G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483786",
      "coordinates": [
        {
          "allele": "A",
          "end": 4046,
          "referenceAllele": "G",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.3897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr1299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488609",
      "coordinates": [
        {
          "allele": "A",
          "end": 4544,
          "referenceAllele": "G",
          "start": 4543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.4374G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr1458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490943",
      "coordinates": [
        {
          "allele": "A",
          "end": 3941,
          "referenceAllele": "G",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.3867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr1289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495579",
      "coordinates": [
        {
          "allele": "A",
          "end": 4031,
          "referenceAllele": "G",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.3963G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr1321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500189",
      "coordinates": [
        {
          "allele": "A",
          "end": 3984,
          "referenceAllele": "G",
          "start": 3983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.3975G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr1325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504824",
      "coordinates": [
        {
          "allele": "A",
          "end": 4092,
          "referenceAllele": "G",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.3963G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr1321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4492,
          "referenceAllele": "G",
          "start": 4491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.4389G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr1463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4092,
          "referenceAllele": "G",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.3990G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr1330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4035,
          "referenceAllele": "G",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.3978G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr1326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4125,
          "referenceAllele": "G",
          "start": 4124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.3978G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr1326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3978,
          "referenceAllele": "G",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.3936G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3977,
          "referenceAllele": "G",
          "start": 3976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.3912G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr1304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3909,
          "referenceAllele": "G",
          "start": 3908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.3894G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Thr1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "referenceAllele": "G",
          "start": 3967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.3882G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr1294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4155,
          "referenceAllele": "G",
          "start": 4154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.4059G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr1353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3924,
          "referenceAllele": "G",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.3909G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Thr1303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3924,
          "referenceAllele": "G",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.3909G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr1303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4080,
          "referenceAllele": "G",
          "start": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.3978G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr1326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3909,
          "referenceAllele": "G",
          "start": 3908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.3894G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4085,
          "referenceAllele": "G",
          "start": 4084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.3990G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr1330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "G",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.4389G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Thr1463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4111,
          "referenceAllele": "G",
          "start": 4110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.3990G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Thr1330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4070,
          "referenceAllele": "G",
          "start": 4069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.3978G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Thr1326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4155,
          "referenceAllele": "G",
          "start": 4154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.3978G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Thr1326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3992,
          "referenceAllele": "G",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.3936G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Thr1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3981,
          "referenceAllele": "G",
          "start": 3980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.3912G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Thr1304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5389,
          "referenceAllele": "G",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.3882G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Thr1294="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4163,
          "referenceAllele": "G",
          "start": 4162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.4059G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Thr1353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4034,
          "referenceAllele": "G",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.3909G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Thr1303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4099,
          "referenceAllele": "G",
          "start": 4098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.3978G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Thr1326="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4018,
          "referenceAllele": "G",
          "start": 4017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.3894G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Thr1298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4107,
          "referenceAllele": "G",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.3990G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Thr1330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173472",
      "coordinates": [
        {
          "allele": "A",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.4044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Thr1348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476755",
      "coordinates": [
        {
          "allele": "A",
          "end": 3978,
          "referenceAllele": "G",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.3921G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Thr1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.3921G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.3921G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Thr1307="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Thr1307="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483786",
      "coordinates": [
        {
          "allele": "A",
          "end": 3960,
          "referenceAllele": "G",
          "start": 3959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.3897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Thr1299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488609",
      "coordinates": [
        {
          "allele": "A",
          "end": 4594,
          "referenceAllele": "G",
          "start": 4593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.4374G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Thr1458="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490943",
      "coordinates": [
        {
          "allele": "A",
          "end": 3974,
          "referenceAllele": "G",
          "start": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.3867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Thr1289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495579",
      "coordinates": [
        {
          "allele": "A",
          "end": 4058,
          "referenceAllele": "G",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.3963G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Thr1321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500189",
      "coordinates": [
        {
          "allele": "A",
          "end": 4084,
          "referenceAllele": "G",
          "start": 4083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.3975G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Thr1325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504824",
      "coordinates": [
        {
          "allele": "A",
          "end": 4099,
          "referenceAllele": "G",
          "start": 4098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.3963G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Thr1321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.3963G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.3963G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Thr1321="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Thr1321="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}