{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA242402",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.2844C>T (p.Pro948=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192962[alleleid]",
        "alleleId": 192962,
        "preferredName": "NM_201384.3(PLEC):c.2844C>T (p.Pro948=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195801",
        "RCV": [
          "RCV000176458",
          "RCV000725509",
          "RCV001086698"
        ],
        "variationId": 195801
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145003893-G-A",
        "id": "8-145003893-G-A",
        "variant": "8:145003893 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145003893G>A?assembly=hg19",
        "id": "chr8:g.145003893G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143929725G>A?assembly=hg38",
        "id": "chr8:g.143929725G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200482255",
        "rs": 200482255
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145003893-G-A?dataset=gnomad_r2_1",
        "id": "8-145003893-G-A",
        "variant": "8:145003893 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143929725-G-A?dataset=gnomad_r3",
        "id": "8-143929725-G-A",
        "variant": "8:143929725 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143929725-G-A?dataset=gnomad_r4",
        "id": "8-143929725-G-A",
        "variant": "8:143929725 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 143929725,
          "referenceAllele": "G",
          "start": 143929724
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143929725G>A",
        "CM000670.2:g.143929725G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145003893,
          "referenceAllele": "G",
          "start": 145003892
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145003893G>A",
        "CM000670.1:g.145003893G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 145075881,
          "referenceAllele": "G",
          "start": 145075880
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145075881G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 52021,
          "referenceAllele": "C",
          "start": 52020
        }
      ],
      "hgvs": [
        "NG_012492.1:g.52021C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2982,
          "referenceAllele": "C",
          "start": 2981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.2976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Pro992="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2937,
          "referenceAllele": "C",
          "start": 2936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.2895C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Pro965="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2895,
          "referenceAllele": "C",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.2562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Pro854="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2788,
          "referenceAllele": "C",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Pro925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2980,
          "referenceAllele": "C",
          "start": 2979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.2844C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2844C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2844C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro948="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro948="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2963,
          "referenceAllele": "C",
          "start": 2962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.2925C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Pro975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3425,
          "referenceAllele": "C",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.3255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Pro1085="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.2844C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "referenceAllele": "C",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.2844C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Pro948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2927,
          "referenceAllele": "C",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.2778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Pro926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "referenceAllele": "C",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Pro934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2802C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2802C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro934="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro934="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2865,
          "referenceAllele": "C",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.2856C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Pro952="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2822,
          "referenceAllele": "C",
          "start": 2821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.2748C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Pro916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2963,
          "referenceAllele": "C",
          "start": 2962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.2925C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Pro975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2913,
          "referenceAllele": "C",
          "start": 2912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.2913C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Pro971="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173111",
      "coordinates": [
        {
          "allele": "T",
          "end": 2974,
          "referenceAllele": "C",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.2925C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476222",
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "referenceAllele": "C",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483256",
      "coordinates": [
        {
          "allele": "T",
          "end": 2927,
          "referenceAllele": "C",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.2778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488421",
      "coordinates": [
        {
          "allele": "T",
          "end": 3425,
          "referenceAllele": "C",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.3255C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro1085="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490577",
      "coordinates": [
        {
          "allele": "T",
          "end": 2822,
          "referenceAllele": "C",
          "start": 2821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.2748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495205",
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "referenceAllele": "C",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.2844C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499832",
      "coordinates": [
        {
          "allele": "T",
          "end": 2865,
          "referenceAllele": "C",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.2856C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro952="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504453",
      "coordinates": [
        {
          "allele": "T",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.2844C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3373,
          "referenceAllele": "C",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.3270C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro1090="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.2871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2916,
          "referenceAllele": "C",
          "start": 2915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.2859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro953="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3006,
          "referenceAllele": "C",
          "start": 3005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.2859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro953="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "referenceAllele": "C",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.2817C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2858,
          "referenceAllele": "C",
          "start": 2857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.2793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro931="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2790,
          "referenceAllele": "C",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Pro925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2849,
          "referenceAllele": "C",
          "start": 2848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.2763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro921="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3036,
          "referenceAllele": "C",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.2940C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2805,
          "referenceAllele": "C",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.2790C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Pro930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2805,
          "referenceAllele": "C",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.2790C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2961,
          "referenceAllele": "C",
          "start": 2960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.2859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro953="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2790,
          "referenceAllele": "C",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2966,
          "referenceAllele": "C",
          "start": 2965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.2871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3466,
          "referenceAllele": "C",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.3270C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro1090="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2992,
          "referenceAllele": "C",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.2871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2951,
          "referenceAllele": "C",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.2859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro953="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3036,
          "referenceAllele": "C",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.2859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro953="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2873,
          "referenceAllele": "C",
          "start": 2872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.2817C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2862,
          "referenceAllele": "C",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.2793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro931="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4270,
          "referenceAllele": "C",
          "start": 4269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.2763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro921="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3044,
          "referenceAllele": "C",
          "start": 3043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.2940C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro980="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2915,
          "referenceAllele": "C",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.2790C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro930="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2980,
          "referenceAllele": "C",
          "start": 2979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.2859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro953="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2899,
          "referenceAllele": "C",
          "start": 2898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.2775C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro925="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2988,
          "referenceAllele": "C",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.2871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825173111",
      "coordinates": [
        {
          "allele": "T",
          "end": 2974,
          "referenceAllele": "C",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.2925C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro975="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830476222",
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "referenceAllele": "C",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.2802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro934="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.2802C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.2802C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro934="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro934="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830483256",
      "coordinates": [
        {
          "allele": "T",
          "end": 2841,
          "referenceAllele": "C",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.2778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro926="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488421",
      "coordinates": [
        {
          "allele": "T",
          "end": 3475,
          "referenceAllele": "C",
          "start": 3474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.3255C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro1085="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830490577",
      "coordinates": [
        {
          "allele": "T",
          "end": 2855,
          "referenceAllele": "C",
          "start": 2854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.2748C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830495205",
      "coordinates": [
        {
          "allele": "T",
          "end": 2939,
          "referenceAllele": "C",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.2844C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830499832",
      "coordinates": [
        {
          "allele": "T",
          "end": 2965,
          "referenceAllele": "C",
          "start": 2964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.2856C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro952="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830504453",
      "coordinates": [
        {
          "allele": "T",
          "end": 2980,
          "referenceAllele": "C",
          "start": 2979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.2844C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.2844C>T"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.2844C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro948="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro948="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}