{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4926326",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.5556G>A (p.Ala1852=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274543[alleleid]",
        "alleleId": 274543,
        "preferredName": "NM_201384.3(PLEC):c.5556G>A (p.Ala1852=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290306",
        "RCV": [
          "RCV000366793",
          "RCV002059285"
        ],
        "variationId": 290306
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144998541-C-T",
        "id": "8-144998541-C-T",
        "variant": "8:144998541 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144998541C>T?assembly=hg19",
        "id": "chr8:g.144998541C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143924373C>T?assembly=hg38",
        "id": "chr8:g.143924373C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782115169",
        "rs": 782115169
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144998541-C-T?dataset=gnomad_r2_1",
        "id": "8-144998541-C-T",
        "variant": "8:144998541 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143924373-C-T?dataset=gnomad_r3",
        "id": "8-143924373-C-T",
        "variant": "8:143924373 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143924373-C-T?dataset=gnomad_r4",
        "id": "8-143924373-C-T",
        "variant": "8:143924373 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143924373,
          "referenceAllele": "C",
          "start": 143924372
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143924373C>T",
        "CM000670.2:g.143924373C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144998541,
          "referenceAllele": "C",
          "start": 144998540
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144998541C>T",
        "CM000670.1:g.144998541C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145070529,
          "referenceAllele": "C",
          "start": 145070528
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145070529C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57373,
          "referenceAllele": "G",
          "start": 57372
        }
      ],
      "hgvs": [
        "NG_012492.1:g.57373G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5694,
          "referenceAllele": "G",
          "start": 5693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.5688G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ala1896="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5649,
          "referenceAllele": "G",
          "start": 5648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.5607G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ala1869="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5607,
          "referenceAllele": "G",
          "start": 5606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.5274G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ala1758="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5500,
          "referenceAllele": "G",
          "start": 5499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.5487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ala1829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5692,
          "referenceAllele": "G",
          "start": 5691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.5556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.5556G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.5556G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala1852="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala1852="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4163,
          "endIntronDirection": "-",
          "endIntronOffset": 1977,
          "referenceAllele": "G",
          "start": 4163,
          "startIntronDirection": "-",
          "startIntronOffset": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4126-1978G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:n.4126-1978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6137,
          "referenceAllele": "G",
          "start": 6136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.5967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ala1989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5685,
          "referenceAllele": "G",
          "start": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.5556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5624,
          "referenceAllele": "G",
          "start": 5623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.5556G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ala1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5639,
          "referenceAllele": "G",
          "start": 5638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.5490G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ala1830="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5571,
          "referenceAllele": "G",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.5514G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ala1838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.5514G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.5514G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala1838="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala1838="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5577,
          "referenceAllele": "G",
          "start": 5576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.5568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ala1856="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.5460G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ala1820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5675,
          "referenceAllele": "G",
          "start": 5674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.5637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ala1879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5625,
          "referenceAllele": "G",
          "start": 5624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.5625G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ala1875="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "endIntronDirection": "-",
          "endIntronOffset": 1977,
          "referenceAllele": "G",
          "start": 134,
          "startIntronDirection": "-",
          "startIntronOffset": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.135-1978G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174104",
      "coordinates": [
        {
          "allele": "A",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.5637G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala1879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830477652",
      "coordinates": [
        {
          "allele": "A",
          "end": 5571,
          "referenceAllele": "G",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.5514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala1838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830484716",
      "coordinates": [
        {
          "allele": "A",
          "end": 5639,
          "referenceAllele": "G",
          "start": 5638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.5490G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala1830="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488801",
      "coordinates": [
        {
          "allele": "A",
          "end": 6137,
          "referenceAllele": "G",
          "start": 6136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.5967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala1989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830491574",
      "coordinates": [
        {
          "allele": "A",
          "end": 5534,
          "referenceAllele": "G",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.5460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala1820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496210",
      "coordinates": [
        {
          "allele": "A",
          "end": 5624,
          "referenceAllele": "G",
          "start": 5623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.5556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500821",
      "coordinates": [
        {
          "allele": "A",
          "end": 5577,
          "referenceAllele": "G",
          "start": 5576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.5568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala1856="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505454",
      "coordinates": [
        {
          "allele": "A",
          "end": 5685,
          "referenceAllele": "G",
          "start": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.5556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6085,
          "referenceAllele": "G",
          "start": 6084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.5982G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala1994="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5685,
          "referenceAllele": "G",
          "start": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.5583G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala1861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5628,
          "referenceAllele": "G",
          "start": 5627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.5571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5718,
          "referenceAllele": "G",
          "start": 5717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.5571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5571,
          "referenceAllele": "G",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.5529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala1843="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5570,
          "referenceAllele": "G",
          "start": 5569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.5505G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala1835="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.5487G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ala1829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5561,
          "referenceAllele": "G",
          "start": 5560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.5475G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala1825="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5748,
          "referenceAllele": "G",
          "start": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.5652G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala1884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5517,
          "referenceAllele": "G",
          "start": 5516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.5502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ala1834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5517,
          "referenceAllele": "G",
          "start": 5516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.5502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala1834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5673,
          "referenceAllele": "G",
          "start": 5672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.5571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5502,
          "referenceAllele": "G",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.5487G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala1829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4166,
          "endIntronDirection": "-",
          "endIntronOffset": 1977,
          "referenceAllele": "G",
          "start": 4166,
          "startIntronDirection": "-",
          "startIntronOffset": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4072-1978G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-1978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6178,
          "referenceAllele": "G",
          "start": 6177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.5982G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala1994="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5704,
          "referenceAllele": "G",
          "start": 5703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.5583G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala1861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5663,
          "referenceAllele": "G",
          "start": 5662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.5571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5748,
          "referenceAllele": "G",
          "start": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.5571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5585,
          "referenceAllele": "G",
          "start": 5584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.5529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala1843="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5574,
          "referenceAllele": "G",
          "start": 5573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.5505G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala1835="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6982,
          "referenceAllele": "G",
          "start": 6981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.5475G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala1825="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5756,
          "referenceAllele": "G",
          "start": 5755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.5652G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala1884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5627,
          "referenceAllele": "G",
          "start": 5626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.5502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala1834="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5692,
          "referenceAllele": "G",
          "start": 5691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.5571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala1857="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5611,
          "referenceAllele": "G",
          "start": 5610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.5487G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala1829="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4188,
          "endIntronDirection": "-",
          "endIntronOffset": 1977,
          "referenceAllele": "G",
          "start": 4188,
          "startIntronDirection": "-",
          "startIntronOffset": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4072-1978G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-1978G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174104",
      "coordinates": [
        {
          "allele": "A",
          "end": 5686,
          "referenceAllele": "G",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.5637G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala1879="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830477652",
      "coordinates": [
        {
          "allele": "A",
          "end": 5571,
          "referenceAllele": "G",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.5514G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala1838="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.5514G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.5514G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala1838="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala1838="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830484716",
      "coordinates": [
        {
          "allele": "A",
          "end": 5553,
          "referenceAllele": "G",
          "start": 5552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.5490G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala1830="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488801",
      "coordinates": [
        {
          "allele": "A",
          "end": 6187,
          "referenceAllele": "G",
          "start": 6186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.5967G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala1989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830491574",
      "coordinates": [
        {
          "allele": "A",
          "end": 5567,
          "referenceAllele": "G",
          "start": 5566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.5460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala1820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496210",
      "coordinates": [
        {
          "allele": "A",
          "end": 5651,
          "referenceAllele": "G",
          "start": 5650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.5556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830500821",
      "coordinates": [
        {
          "allele": "A",
          "end": 5677,
          "referenceAllele": "G",
          "start": 5676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.5568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala1856="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505454",
      "coordinates": [
        {
          "allele": "A",
          "end": 5692,
          "referenceAllele": "G",
          "start": 5691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.5556G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala1852="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.5556G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.5556G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala1852="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala1852="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}