{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4923998",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=925030[alleleid]",
        "alleleId": 925030,
        "preferredName": "NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/950439",
        "RCV": [
          "RCV001222147",
          "RCV001664764",
          "RCV003163713"
        ],
        "variationId": 950439
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144991268-C-T",
        "id": "8-144991268-C-T",
        "variant": "8:144991268 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144991268C>T?assembly=hg19",
        "id": "chr8:g.144991268C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143917100C>T?assembly=hg38",
        "id": "chr8:g.143917100C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782789434",
        "rs": 782789434
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144991268-C-T?dataset=gnomad_r2_1",
        "id": "8-144991268-C-T",
        "variant": "8:144991268 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143917100-C-T?dataset=gnomad_r3",
        "id": "8-143917100-C-T",
        "variant": "8:143917100 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143917100-C-T?dataset=gnomad_r4",
        "id": "8-143917100-C-T",
        "variant": "8:143917100 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143917100,
          "referenceAllele": "C",
          "start": 143917099
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143917100C>T",
        "CM000670.2:g.143917100C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144991268,
          "referenceAllele": "C",
          "start": 144991267
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144991268C>T",
        "CM000670.1:g.144991268C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145063256,
          "referenceAllele": "C",
          "start": 145063255
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145063256C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64646,
          "referenceAllele": "G",
          "start": 64645
        }
      ],
      "hgvs": [
        "NG_012492.1:g.64646G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12859,
          "referenceAllele": "G",
          "start": 12858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.12853G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Gly4285Ser",
        "hgvsWellDefined": "ENSP00000437303.2:p.Gly4285Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12814,
          "referenceAllele": "G",
          "start": 12813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.12772G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Gly4258Ser",
        "hgvsWellDefined": "ENSP00000510528.1:p.Gly4258Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12772,
          "referenceAllele": "G",
          "start": 12771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.12439G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Gly4147Ser",
        "hgvsWellDefined": "ENSP00000510788.1:p.Gly4147Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12665,
          "referenceAllele": "G",
          "start": 12664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.12652G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Gly4218Ser",
        "hgvsWellDefined": "ENSP00000510329.1:p.Gly4218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12857,
          "referenceAllele": "G",
          "start": 12856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.12721G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Gly4241Ser",
        "hgvsWellDefined": "ENSP00000344848.3:p.Gly4241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.12721G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.12721G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Gly4241Ser"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Gly4241Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9459,
          "referenceAllele": "G",
          "start": 9458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.9421G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Gly3141Ser",
        "hgvsWellDefined": "ENSP00000433982.2:p.Gly3141Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13302,
          "referenceAllele": "G",
          "start": 13301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.13132G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Gly4378Ser",
        "hgvsWellDefined": "ENSP00000323856.4:p.Gly4378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12850,
          "referenceAllele": "G",
          "start": 12849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.12721G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Gly4241Ser",
        "hgvsWellDefined": "ENSP00000344848.3:p.Gly4241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12789,
          "referenceAllele": "G",
          "start": 12788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.12721G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Gly4241Ser",
        "hgvsWellDefined": "ENSP00000346602.3:p.Gly4241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12804,
          "referenceAllele": "G",
          "start": 12803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.12655G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Gly4219Ser",
        "hgvsWellDefined": "ENSP00000347044.2:p.Gly4219Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12736,
          "referenceAllele": "G",
          "start": 12735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.12679G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Gly4227Ser",
        "hgvsWellDefined": "ENSP00000348702.3:p.Gly4227Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.12679G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.12679G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Gly4227Ser"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Gly4227Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12742,
          "referenceAllele": "G",
          "start": 12741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.12733G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Gly4245Ser",
        "hgvsWellDefined": "ENSP00000350277.2:p.Gly4245Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12699,
          "referenceAllele": "G",
          "start": 12698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.12625G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Gly4209Ser",
        "hgvsWellDefined": "ENSP00000381756.2:p.Gly4209Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12840,
          "referenceAllele": "G",
          "start": 12839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Gly4268Ser",
        "hgvsWellDefined": "ENSP00000388180.2:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12790,
          "referenceAllele": "G",
          "start": 12789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.12790G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Gly4264Ser",
        "hgvsWellDefined": "ENSP00000434583.1:p.Gly4264Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176659",
      "coordinates": [
        {
          "allele": "A",
          "end": 12851,
          "referenceAllele": "G",
          "start": 12850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Gly4268Ser",
        "hgvsWellDefined": "NP_000436.2:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481565",
      "coordinates": [
        {
          "allele": "A",
          "end": 12736,
          "referenceAllele": "G",
          "start": 12735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.12679G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Gly4227Ser",
        "hgvsWellDefined": "NP_958780.1:p.Gly4227Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487739",
      "coordinates": [
        {
          "allele": "A",
          "end": 12804,
          "referenceAllele": "G",
          "start": 12803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.12655G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Gly4219Ser",
        "hgvsWellDefined": "NP_958781.1:p.Gly4219Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139765172",
      "coordinates": [
        {
          "allele": "A",
          "end": 13302,
          "referenceAllele": "G",
          "start": 13301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.13132G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Gly4378Ser",
        "hgvsWellDefined": "NP_958782.1:p.Gly4378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494129",
      "coordinates": [
        {
          "allele": "A",
          "end": 12699,
          "referenceAllele": "G",
          "start": 12698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.12625G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Gly4209Ser",
        "hgvsWellDefined": "NP_958783.1:p.Gly4209Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498765",
      "coordinates": [
        {
          "allele": "A",
          "end": 12789,
          "referenceAllele": "G",
          "start": 12788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.12721G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Gly4241Ser",
        "hgvsWellDefined": "NP_958784.1:p.Gly4241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503376",
      "coordinates": [
        {
          "allele": "A",
          "end": 12742,
          "referenceAllele": "G",
          "start": 12741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.12733G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Gly4245Ser",
        "hgvsWellDefined": "NP_958785.1:p.Gly4245Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508010",
      "coordinates": [
        {
          "allele": "A",
          "end": 12850,
          "referenceAllele": "G",
          "start": 12849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.12721G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Gly4241Ser",
        "hgvsWellDefined": "NP_958786.1:p.Gly4241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13250,
          "referenceAllele": "G",
          "start": 13249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.13147G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Gly4383Ser",
        "hgvsWellDefined": "XP_005251033.1:p.Gly4383Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12850,
          "referenceAllele": "G",
          "start": 12849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.12748G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Gly4250Ser",
        "hgvsWellDefined": "XP_005251035.1:p.Gly4250Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12793,
          "referenceAllele": "G",
          "start": 12792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.12736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Gly4246Ser",
        "hgvsWellDefined": "XP_005251036.1:p.Gly4246Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12883,
          "referenceAllele": "G",
          "start": 12882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.12736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Gly4246Ser",
        "hgvsWellDefined": "XP_005251037.1:p.Gly4246Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12736,
          "referenceAllele": "G",
          "start": 12735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.12694G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Gly4232Ser",
        "hgvsWellDefined": "XP_005251038.1:p.Gly4232Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12735,
          "referenceAllele": "G",
          "start": 12734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.12670G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Gly4224Ser",
        "hgvsWellDefined": "XP_005251039.1:p.Gly4224Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12667,
          "referenceAllele": "G",
          "start": 12666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.12652G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Gly4218Ser",
        "hgvsWellDefined": "XP_005251040.1:p.Gly4218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12726,
          "referenceAllele": "G",
          "start": 12725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.12640G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Gly4214Ser",
        "hgvsWellDefined": "XP_005251041.1:p.Gly4214Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12913,
          "referenceAllele": "G",
          "start": 12912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.12817G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Gly4273Ser",
        "hgvsWellDefined": "XP_006716651.1:p.Gly4273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12682,
          "referenceAllele": "G",
          "start": 12681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.12667G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Gly4223Ser",
        "hgvsWellDefined": "XP_006716652.1:p.Gly4223Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12682,
          "referenceAllele": "G",
          "start": 12681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.12667G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Gly4223Ser",
        "hgvsWellDefined": "XP_006716653.1:p.Gly4223Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12838,
          "referenceAllele": "G",
          "start": 12837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.12736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Gly4246Ser",
        "hgvsWellDefined": "XP_011515432.1:p.Gly4246Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12667,
          "referenceAllele": "G",
          "start": 12666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.12652G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Gly4218Ser",
        "hgvsWellDefined": "XP_011515433.1:p.Gly4218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9462,
          "referenceAllele": "G",
          "start": 9461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.9367G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Gly3123Ser",
        "hgvsWellDefined": "XP_011515434.1:p.Gly3123Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13343,
          "referenceAllele": "G",
          "start": 13342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.13147G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Gly4383Ser",
        "hgvsWellDefined": "XP_005251033.1:p.Gly4383Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12869,
          "referenceAllele": "G",
          "start": 12868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.12748G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Gly4250Ser",
        "hgvsWellDefined": "XP_005251035.1:p.Gly4250Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12828,
          "referenceAllele": "G",
          "start": 12827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.12736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Gly4246Ser",
        "hgvsWellDefined": "XP_005251036.1:p.Gly4246Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12913,
          "referenceAllele": "G",
          "start": 12912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.12736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Gly4246Ser",
        "hgvsWellDefined": "XP_005251037.1:p.Gly4246Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12750,
          "referenceAllele": "G",
          "start": 12749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.12694G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Gly4232Ser",
        "hgvsWellDefined": "XP_005251038.1:p.Gly4232Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12739,
          "referenceAllele": "G",
          "start": 12738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.12670G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Gly4224Ser",
        "hgvsWellDefined": "XP_005251039.1:p.Gly4224Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14147,
          "referenceAllele": "G",
          "start": 14146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.12640G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Gly4214Ser",
        "hgvsWellDefined": "XP_005251041.1:p.Gly4214Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12921,
          "referenceAllele": "G",
          "start": 12920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.12817G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Gly4273Ser",
        "hgvsWellDefined": "XP_006716651.1:p.Gly4273Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12792,
          "referenceAllele": "G",
          "start": 12791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.12667G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Gly4223Ser",
        "hgvsWellDefined": "XP_006716653.1:p.Gly4223Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12857,
          "referenceAllele": "G",
          "start": 12856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.12736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Gly4246Ser",
        "hgvsWellDefined": "XP_011515432.1:p.Gly4246Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12776,
          "referenceAllele": "G",
          "start": 12775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.12652G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Gly4218Ser",
        "hgvsWellDefined": "XP_011515433.1:p.Gly4218Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9484,
          "referenceAllele": "G",
          "start": 9483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.9367G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Gly3123Ser",
        "hgvsWellDefined": "XP_011515434.1:p.Gly3123Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825176659",
      "coordinates": [
        {
          "allele": "A",
          "end": 12851,
          "referenceAllele": "G",
          "start": 12850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.12802G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Gly4268Ser",
        "hgvsWellDefined": "NP_000436.2:p.Gly4268Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481565",
      "coordinates": [
        {
          "allele": "A",
          "end": 12736,
          "referenceAllele": "G",
          "start": 12735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.12679G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Gly4227Ser",
        "hgvsWellDefined": "NP_958780.1:p.Gly4227Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.12679G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.12679G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Gly4227Ser"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Gly4227Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830487739",
      "coordinates": [
        {
          "allele": "A",
          "end": 12718,
          "referenceAllele": "G",
          "start": 12717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.12655G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Gly4219Ser",
        "hgvsWellDefined": "NP_958781.1:p.Gly4219Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139765172",
      "coordinates": [
        {
          "allele": "A",
          "end": 13352,
          "referenceAllele": "G",
          "start": 13351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.13132G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Gly4378Ser",
        "hgvsWellDefined": "NP_958782.1:p.Gly4378Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830494129",
      "coordinates": [
        {
          "allele": "A",
          "end": 12732,
          "referenceAllele": "G",
          "start": 12731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.12625G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Gly4209Ser",
        "hgvsWellDefined": "NP_958783.1:p.Gly4209Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830498765",
      "coordinates": [
        {
          "allele": "A",
          "end": 12816,
          "referenceAllele": "G",
          "start": 12815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.12721G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Gly4241Ser",
        "hgvsWellDefined": "NP_958784.1:p.Gly4241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830503376",
      "coordinates": [
        {
          "allele": "A",
          "end": 12842,
          "referenceAllele": "G",
          "start": 12841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.12733G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Gly4245Ser",
        "hgvsWellDefined": "NP_958785.1:p.Gly4245Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830508010",
      "coordinates": [
        {
          "allele": "A",
          "end": 12857,
          "referenceAllele": "G",
          "start": 12856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.12721G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Gly4241Ser",
        "hgvsWellDefined": "NP_958786.1:p.Gly4241Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.12721G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.12721G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Gly4241Ser"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Gly4241Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}