{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4926305",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=457960[alleleid]",
        "alleleId": 457960,
        "preferredName": "NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471610",
        "RCV": [
          "RCV000549715",
          "RCV001591253"
        ],
        "variationId": 471610
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144998495-G-A",
        "id": "8-144998495-G-A",
        "variant": "8:144998495 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144998495G>A?assembly=hg19",
        "id": "chr8:g.144998495G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143924327G>A?assembly=hg38",
        "id": "chr8:g.143924327G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200543521",
        "rs": 200543521
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144998495-G-A?dataset=gnomad_r2_1",
        "id": "8-144998495-G-A",
        "variant": "8:144998495 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143924327-G-A?dataset=gnomad_r3",
        "id": "8-143924327-G-A",
        "variant": "8:143924327 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143924327-G-A?dataset=gnomad_r4",
        "id": "8-143924327-G-A",
        "variant": "8:143924327 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143924327,
          "referenceAllele": "G",
          "start": 143924326
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143924327G>A",
        "CM000670.2:g.143924327G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144998495,
          "referenceAllele": "G",
          "start": 144998494
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144998495G>A",
        "CM000670.1:g.144998495G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145070483,
          "referenceAllele": "G",
          "start": 145070482
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145070483G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57419,
          "referenceAllele": "C",
          "start": 57418
        }
      ],
      "hgvs": [
        "NG_012492.1:g.57419C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5740,
          "referenceAllele": "C",
          "start": 5739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.5734C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg1912Trp",
        "hgvsWellDefined": "ENSP00000437303.2:p.Arg1912Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5695,
          "referenceAllele": "C",
          "start": 5694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.5653C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg1885Trp",
        "hgvsWellDefined": "ENSP00000510528.1:p.Arg1885Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5653,
          "referenceAllele": "C",
          "start": 5652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.5320C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg1774Trp",
        "hgvsWellDefined": "ENSP00000510788.1:p.Arg1774Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5546,
          "referenceAllele": "C",
          "start": 5545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.5533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg1845Trp",
        "hgvsWellDefined": "ENSP00000510329.1:p.Arg1845Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5738,
          "referenceAllele": "C",
          "start": 5737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.5602C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg1868Trp",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg1868Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.5602C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.5602C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg1868Trp"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg1868Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4163,
          "endIntronDirection": "-",
          "endIntronOffset": 1931,
          "referenceAllele": "C",
          "start": 4163,
          "startIntronDirection": "-",
          "startIntronOffset": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4126-1932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:n.4126-1932C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6183,
          "referenceAllele": "C",
          "start": 6182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.6013C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg2005Trp",
        "hgvsWellDefined": "ENSP00000323856.4:p.Arg2005Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5731,
          "referenceAllele": "C",
          "start": 5730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.5602C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg1868Trp",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg1868Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5670,
          "referenceAllele": "C",
          "start": 5669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.5602C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg1868Trp",
        "hgvsWellDefined": "ENSP00000346602.3:p.Arg1868Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5685,
          "referenceAllele": "C",
          "start": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.5536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg1846Trp",
        "hgvsWellDefined": "ENSP00000347044.2:p.Arg1846Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5617,
          "referenceAllele": "C",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.5560C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg1854Trp",
        "hgvsWellDefined": "ENSP00000348702.3:p.Arg1854Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.5560C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.5560C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg1854Trp"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg1854Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5623,
          "referenceAllele": "C",
          "start": 5622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.5614C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg1872Trp",
        "hgvsWellDefined": "ENSP00000350277.2:p.Arg1872Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5580,
          "referenceAllele": "C",
          "start": 5579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.5506C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg1836Trp",
        "hgvsWellDefined": "ENSP00000381756.2:p.Arg1836Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5721,
          "referenceAllele": "C",
          "start": 5720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.5683C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg1895Trp",
        "hgvsWellDefined": "ENSP00000388180.2:p.Arg1895Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5671,
          "referenceAllele": "C",
          "start": 5670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.5671C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg1891Trp",
        "hgvsWellDefined": "ENSP00000434583.1:p.Arg1891Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "endIntronDirection": "-",
          "endIntronOffset": 1931,
          "referenceAllele": "C",
          "start": 134,
          "startIntronDirection": "-",
          "startIntronOffset": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.135-1932C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174124",
      "coordinates": [
        {
          "allele": "T",
          "end": 5732,
          "referenceAllele": "C",
          "start": 5731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.5683C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg1895Trp",
        "hgvsWellDefined": "NP_000436.2:p.Arg1895Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830477692",
      "coordinates": [
        {
          "allele": "T",
          "end": 5617,
          "referenceAllele": "C",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.5560C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg1854Trp",
        "hgvsWellDefined": "NP_958780.1:p.Arg1854Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830484742",
      "coordinates": [
        {
          "allele": "T",
          "end": 5685,
          "referenceAllele": "C",
          "start": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.5536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg1846Trp",
        "hgvsWellDefined": "NP_958781.1:p.Arg1846Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669402",
      "coordinates": [
        {
          "allele": "T",
          "end": 6183,
          "referenceAllele": "C",
          "start": 6182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.6013C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg2005Trp",
        "hgvsWellDefined": "NP_958782.1:p.Arg2005Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830491594",
      "coordinates": [
        {
          "allele": "T",
          "end": 5580,
          "referenceAllele": "C",
          "start": 5579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.5506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg1836Trp",
        "hgvsWellDefined": "NP_958783.1:p.Arg1836Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496230",
      "coordinates": [
        {
          "allele": "T",
          "end": 5670,
          "referenceAllele": "C",
          "start": 5669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.5602C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg1868Trp",
        "hgvsWellDefined": "NP_958784.1:p.Arg1868Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500841",
      "coordinates": [
        {
          "allele": "T",
          "end": 5623,
          "referenceAllele": "C",
          "start": 5622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.5614C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg1872Trp",
        "hgvsWellDefined": "NP_958785.1:p.Arg1872Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505475",
      "coordinates": [
        {
          "allele": "T",
          "end": 5731,
          "referenceAllele": "C",
          "start": 5730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.5602C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg1868Trp",
        "hgvsWellDefined": "NP_958786.1:p.Arg1868Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6131,
          "referenceAllele": "C",
          "start": 6130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.6028C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg2010Trp",
        "hgvsWellDefined": "XP_005251033.1:p.Arg2010Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5731,
          "referenceAllele": "C",
          "start": 5730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.5629C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg1877Trp",
        "hgvsWellDefined": "XP_005251035.1:p.Arg1877Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5674,
          "referenceAllele": "C",
          "start": 5673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.5617C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg1873Trp",
        "hgvsWellDefined": "XP_005251036.1:p.Arg1873Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5764,
          "referenceAllele": "C",
          "start": 5763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.5617C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg1873Trp",
        "hgvsWellDefined": "XP_005251037.1:p.Arg1873Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5617,
          "referenceAllele": "C",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.5575C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg1859Trp",
        "hgvsWellDefined": "XP_005251038.1:p.Arg1859Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5616,
          "referenceAllele": "C",
          "start": 5615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.5551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg1851Trp",
        "hgvsWellDefined": "XP_005251039.1:p.Arg1851Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5548,
          "referenceAllele": "C",
          "start": 5547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.5533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg1845Trp",
        "hgvsWellDefined": "XP_005251040.1:p.Arg1845Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5607,
          "referenceAllele": "C",
          "start": 5606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.5521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg1841Trp",
        "hgvsWellDefined": "XP_005251041.1:p.Arg1841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5794,
          "referenceAllele": "C",
          "start": 5793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.5698C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg1900Trp",
        "hgvsWellDefined": "XP_006716651.1:p.Arg1900Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5563,
          "referenceAllele": "C",
          "start": 5562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.5548C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg1850Trp",
        "hgvsWellDefined": "XP_006716652.1:p.Arg1850Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5563,
          "referenceAllele": "C",
          "start": 5562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.5548C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg1850Trp",
        "hgvsWellDefined": "XP_006716653.1:p.Arg1850Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5719,
          "referenceAllele": "C",
          "start": 5718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.5617C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg1873Trp",
        "hgvsWellDefined": "XP_011515432.1:p.Arg1873Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5548,
          "referenceAllele": "C",
          "start": 5547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.5533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg1845Trp",
        "hgvsWellDefined": "XP_011515433.1:p.Arg1845Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4166,
          "endIntronDirection": "-",
          "endIntronOffset": 1931,
          "referenceAllele": "C",
          "start": 4166,
          "startIntronDirection": "-",
          "startIntronOffset": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4072-1932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-1932C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6224,
          "referenceAllele": "C",
          "start": 6223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.6028C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg2010Trp",
        "hgvsWellDefined": "XP_005251033.1:p.Arg2010Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5750,
          "referenceAllele": "C",
          "start": 5749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.5629C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg1877Trp",
        "hgvsWellDefined": "XP_005251035.1:p.Arg1877Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5709,
          "referenceAllele": "C",
          "start": 5708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.5617C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg1873Trp",
        "hgvsWellDefined": "XP_005251036.1:p.Arg1873Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5794,
          "referenceAllele": "C",
          "start": 5793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.5617C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg1873Trp",
        "hgvsWellDefined": "XP_005251037.1:p.Arg1873Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5631,
          "referenceAllele": "C",
          "start": 5630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.5575C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg1859Trp",
        "hgvsWellDefined": "XP_005251038.1:p.Arg1859Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5620,
          "referenceAllele": "C",
          "start": 5619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.5551C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg1851Trp",
        "hgvsWellDefined": "XP_005251039.1:p.Arg1851Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7028,
          "referenceAllele": "C",
          "start": 7027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.5521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg1841Trp",
        "hgvsWellDefined": "XP_005251041.1:p.Arg1841Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5802,
          "referenceAllele": "C",
          "start": 5801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.5698C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg1900Trp",
        "hgvsWellDefined": "XP_006716651.1:p.Arg1900Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5673,
          "referenceAllele": "C",
          "start": 5672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.5548C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg1850Trp",
        "hgvsWellDefined": "XP_006716653.1:p.Arg1850Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5738,
          "referenceAllele": "C",
          "start": 5737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.5617C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg1873Trp",
        "hgvsWellDefined": "XP_011515432.1:p.Arg1873Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5657,
          "referenceAllele": "C",
          "start": 5656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.5533C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg1845Trp",
        "hgvsWellDefined": "XP_011515433.1:p.Arg1845Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4188,
          "endIntronDirection": "-",
          "endIntronOffset": 1931,
          "referenceAllele": "C",
          "start": 4188,
          "startIntronDirection": "-",
          "startIntronOffset": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4072-1932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-1932C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174124",
      "coordinates": [
        {
          "allele": "T",
          "end": 5732,
          "referenceAllele": "C",
          "start": 5731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.5683C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg1895Trp",
        "hgvsWellDefined": "NP_000436.2:p.Arg1895Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830477692",
      "coordinates": [
        {
          "allele": "T",
          "end": 5617,
          "referenceAllele": "C",
          "start": 5616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.5560C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg1854Trp",
        "hgvsWellDefined": "NP_958780.1:p.Arg1854Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.5560C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.5560C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg1854Trp"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg1854Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830484742",
      "coordinates": [
        {
          "allele": "T",
          "end": 5599,
          "referenceAllele": "C",
          "start": 5598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.5536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg1846Trp",
        "hgvsWellDefined": "NP_958781.1:p.Arg1846Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669402",
      "coordinates": [
        {
          "allele": "T",
          "end": 6233,
          "referenceAllele": "C",
          "start": 6232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.6013C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg2005Trp",
        "hgvsWellDefined": "NP_958782.1:p.Arg2005Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830491594",
      "coordinates": [
        {
          "allele": "T",
          "end": 5613,
          "referenceAllele": "C",
          "start": 5612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.5506C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg1836Trp",
        "hgvsWellDefined": "NP_958783.1:p.Arg1836Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496230",
      "coordinates": [
        {
          "allele": "T",
          "end": 5697,
          "referenceAllele": "C",
          "start": 5696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.5602C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg1868Trp",
        "hgvsWellDefined": "NP_958784.1:p.Arg1868Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500841",
      "coordinates": [
        {
          "allele": "T",
          "end": 5723,
          "referenceAllele": "C",
          "start": 5722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.5614C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg1872Trp",
        "hgvsWellDefined": "NP_958785.1:p.Arg1872Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505475",
      "coordinates": [
        {
          "allele": "T",
          "end": 5738,
          "referenceAllele": "C",
          "start": 5737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.5602C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg1868Trp",
        "hgvsWellDefined": "NP_958786.1:p.Arg1868Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.5602C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.5602C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg1868Trp"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg1868Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}