{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4925018",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.9267C>T (p.Pro3089=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=489246[alleleid]",
        "alleleId": 489246,
        "preferredName": "NM_201384.3(PLEC):c.9267C>T (p.Pro3089=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497822",
        "RCV": [
          "RCV000597304",
          "RCV001089161"
        ],
        "variationId": 497822
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144994722-G-A",
        "id": "8-144994722-G-A",
        "variant": "8:144994722 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144994722G>A?assembly=hg19",
        "id": "chr8:g.144994722G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143920554G>A?assembly=hg38",
        "id": "chr8:g.143920554G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371751108",
        "rs": 371751108
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144994722-G-A?dataset=gnomad_r2_1",
        "id": "8-144994722-G-A",
        "variant": "8:144994722 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143920554-G-A?dataset=gnomad_r3",
        "id": "8-143920554-G-A",
        "variant": "8:143920554 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143920554-G-A?dataset=gnomad_r4",
        "id": "8-143920554-G-A",
        "variant": "8:143920554 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143920554,
          "referenceAllele": "G",
          "start": 143920553
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143920554G>A",
        "CM000670.2:g.143920554G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 144994722,
          "referenceAllele": "G",
          "start": 144994721
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144994722G>A",
        "CM000670.1:g.144994722G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145066710,
          "referenceAllele": "G",
          "start": 145066709
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145066710G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61192,
          "referenceAllele": "C",
          "start": 61191
        }
      ],
      "hgvs": [
        "NG_012492.1:g.61192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9405,
          "referenceAllele": "C",
          "start": 9404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.9399C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Pro3133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9360,
          "referenceAllele": "C",
          "start": 9359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.9318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Pro3106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9318,
          "referenceAllele": "C",
          "start": 9317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.8985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Pro2995="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9211,
          "referenceAllele": "C",
          "start": 9210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.9198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Pro3066="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9403,
          "referenceAllele": "C",
          "start": 9402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.9267C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro3089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9267C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9267C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro3089="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro3089="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6005,
          "referenceAllele": "C",
          "start": 6004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.5967C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Pro1989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9848,
          "referenceAllele": "C",
          "start": 9847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.9678C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Pro3226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9396,
          "referenceAllele": "C",
          "start": 9395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.9267C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro3089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9335,
          "referenceAllele": "C",
          "start": 9334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.9267C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Pro3089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9350,
          "referenceAllele": "C",
          "start": 9349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.9201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Pro3067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9282,
          "referenceAllele": "C",
          "start": 9281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.9225C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Pro3075="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9225C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9225C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro3075="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro3075="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9288,
          "referenceAllele": "C",
          "start": 9287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.9279C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Pro3093="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9245,
          "referenceAllele": "C",
          "start": 9244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.9171C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Pro3057="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9386,
          "referenceAllele": "C",
          "start": 9385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.9348C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Pro3116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9336,
          "referenceAllele": "C",
          "start": 9335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.9336C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Pro3112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175511",
      "coordinates": [
        {
          "allele": "T",
          "end": 9397,
          "referenceAllele": "C",
          "start": 9396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.9348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro3116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479964",
      "coordinates": [
        {
          "allele": "T",
          "end": 9282,
          "referenceAllele": "C",
          "start": 9281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.9225C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro3075="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486591",
      "coordinates": [
        {
          "allele": "T",
          "end": 9350,
          "referenceAllele": "C",
          "start": 9349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.9201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro3067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489276",
      "coordinates": [
        {
          "allele": "T",
          "end": 9848,
          "referenceAllele": "C",
          "start": 9847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.9678C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro3226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492981",
      "coordinates": [
        {
          "allele": "T",
          "end": 9245,
          "referenceAllele": "C",
          "start": 9244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.9171C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro3057="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497617",
      "coordinates": [
        {
          "allele": "T",
          "end": 9335,
          "referenceAllele": "C",
          "start": 9334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.9267C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro3089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502228",
      "coordinates": [
        {
          "allele": "T",
          "end": 9288,
          "referenceAllele": "C",
          "start": 9287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.9279C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro3093="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506862",
      "coordinates": [
        {
          "allele": "T",
          "end": 9396,
          "referenceAllele": "C",
          "start": 9395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.9267C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro3089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9796,
          "referenceAllele": "C",
          "start": 9795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.9693C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro3231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9396,
          "referenceAllele": "C",
          "start": 9395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.9294C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro3098="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9339,
          "referenceAllele": "C",
          "start": 9338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.9282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro3094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9429,
          "referenceAllele": "C",
          "start": 9428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.9282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro3094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9282,
          "referenceAllele": "C",
          "start": 9281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.9240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro3080="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9281,
          "referenceAllele": "C",
          "start": 9280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.9216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro3072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9213,
          "referenceAllele": "C",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.9198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Pro3066="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9272,
          "referenceAllele": "C",
          "start": 9271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.9186C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro3062="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9459,
          "referenceAllele": "C",
          "start": 9458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.9363C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro3121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9228,
          "referenceAllele": "C",
          "start": 9227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.9213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Pro3071="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9228,
          "referenceAllele": "C",
          "start": 9227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.9213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro3071="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9384,
          "referenceAllele": "C",
          "start": 9383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.9282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro3094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9213,
          "referenceAllele": "C",
          "start": 9212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.9198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro3066="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6008,
          "referenceAllele": "C",
          "start": 6007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.5913C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro1971="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9889,
          "referenceAllele": "C",
          "start": 9888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.9693C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro3231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9415,
          "referenceAllele": "C",
          "start": 9414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.9294C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro3098="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9374,
          "referenceAllele": "C",
          "start": 9373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.9282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro3094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9459,
          "referenceAllele": "C",
          "start": 9458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.9282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro3094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9296,
          "referenceAllele": "C",
          "start": 9295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.9240C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro3080="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9285,
          "referenceAllele": "C",
          "start": 9284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.9216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro3072="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10693,
          "referenceAllele": "C",
          "start": 10692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.9186C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro3062="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9467,
          "referenceAllele": "C",
          "start": 9466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.9363C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro3121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9338,
          "referenceAllele": "C",
          "start": 9337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.9213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro3071="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9403,
          "referenceAllele": "C",
          "start": 9402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.9282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro3094="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9322,
          "referenceAllele": "C",
          "start": 9321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.9198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro3066="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6030,
          "referenceAllele": "C",
          "start": 6029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.5913C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro1971="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175511",
      "coordinates": [
        {
          "allele": "T",
          "end": 9397,
          "referenceAllele": "C",
          "start": 9396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.9348C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro3116="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479964",
      "coordinates": [
        {
          "allele": "T",
          "end": 9282,
          "referenceAllele": "C",
          "start": 9281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.9225C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro3075="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.9225C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.9225C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro3075="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro3075="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486591",
      "coordinates": [
        {
          "allele": "T",
          "end": 9264,
          "referenceAllele": "C",
          "start": 9263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.9201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro3067="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830489276",
      "coordinates": [
        {
          "allele": "T",
          "end": 9898,
          "referenceAllele": "C",
          "start": 9897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.9678C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro3226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492981",
      "coordinates": [
        {
          "allele": "T",
          "end": 9278,
          "referenceAllele": "C",
          "start": 9277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.9171C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro3057="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497617",
      "coordinates": [
        {
          "allele": "T",
          "end": 9362,
          "referenceAllele": "C",
          "start": 9361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.9267C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro3089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830502228",
      "coordinates": [
        {
          "allele": "T",
          "end": 9388,
          "referenceAllele": "C",
          "start": 9387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.9279C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro3093="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506862",
      "coordinates": [
        {
          "allele": "T",
          "end": 9403,
          "referenceAllele": "C",
          "start": 9402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.9267C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro3089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.9267C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.9267C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro3089="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro3089="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}