{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA146563",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98988[alleleid]",
        "alleleId": 98988,
        "preferredName": "NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93081",
        "RCV": [
          "RCV000078896",
          "RCV000527429",
          "RCV001711188"
        ],
        "variationId": 93081
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144996109-G-C",
        "id": "8-144996109-G-C",
        "variant": "8:144996109 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144996109G>C?assembly=hg19",
        "id": "chr8:g.144996109G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143921941G>C?assembly=hg38",
        "id": "chr8:g.143921941G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/184879368",
        "rs": 184879368
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144996109-G-C?dataset=gnomad_r2_1",
        "id": "8-144996109-G-C",
        "variant": "8:144996109 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143921941-G-C?dataset=gnomad_r3",
        "id": "8-143921941-G-C",
        "variant": "8:143921941 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143921941-G-C?dataset=gnomad_r4",
        "id": "8-143921941-G-C",
        "variant": "8:143921941 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 143921941,
          "referenceAllele": "G",
          "start": 143921940
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143921941G>C",
        "CM000670.2:g.143921941G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 144996109,
          "referenceAllele": "G",
          "start": 144996108
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144996109G>C",
        "CM000670.1:g.144996109G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 145068097,
          "referenceAllele": "G",
          "start": 145068096
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145068097G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59805,
          "referenceAllele": "C",
          "start": 59804
        }
      ],
      "hgvs": [
        "NG_012492.1:g.59805C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8018,
          "referenceAllele": "C",
          "start": 8017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.8012C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Pro2671Arg",
        "hgvsWellDefined": "ENSP00000437303.2:p.Pro2671Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7973,
          "referenceAllele": "C",
          "start": 7972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.7931C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Pro2644Arg",
        "hgvsWellDefined": "ENSP00000510528.1:p.Pro2644Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7931,
          "referenceAllele": "C",
          "start": 7930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.7598C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Pro2533Arg",
        "hgvsWellDefined": "ENSP00000510788.1:p.Pro2533Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7824,
          "referenceAllele": "C",
          "start": 7823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.7811C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Pro2604Arg",
        "hgvsWellDefined": "ENSP00000510329.1:p.Pro2604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8016,
          "referenceAllele": "C",
          "start": 8015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.7880C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro2627Arg",
        "hgvsWellDefined": "ENSP00000344848.3:p.Pro2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7880C>G"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7880C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro2627Arg"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro2627Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4618,
          "referenceAllele": "C",
          "start": 4617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4580C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Pro1527Arg",
        "hgvsWellDefined": "ENSP00000433982.2:p.Pro1527Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8461,
          "referenceAllele": "C",
          "start": 8460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.8291C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Pro2764Arg",
        "hgvsWellDefined": "ENSP00000323856.4:p.Pro2764Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8009,
          "referenceAllele": "C",
          "start": 8008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.7880C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Pro2627Arg",
        "hgvsWellDefined": "ENSP00000344848.3:p.Pro2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7948,
          "referenceAllele": "C",
          "start": 7947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.7880C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Pro2627Arg",
        "hgvsWellDefined": "ENSP00000346602.3:p.Pro2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7963,
          "referenceAllele": "C",
          "start": 7962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.7814C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Pro2605Arg",
        "hgvsWellDefined": "ENSP00000347044.2:p.Pro2605Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7895,
          "referenceAllele": "C",
          "start": 7894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.7838C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Pro2613Arg",
        "hgvsWellDefined": "ENSP00000348702.3:p.Pro2613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7838C>G"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7838C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro2613Arg"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro2613Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7901,
          "referenceAllele": "C",
          "start": 7900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.7892C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Pro2631Arg",
        "hgvsWellDefined": "ENSP00000350277.2:p.Pro2631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7858,
          "referenceAllele": "C",
          "start": 7857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.7784C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Pro2595Arg",
        "hgvsWellDefined": "ENSP00000381756.2:p.Pro2595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7999,
          "referenceAllele": "C",
          "start": 7998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.7961C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Pro2654Arg",
        "hgvsWellDefined": "ENSP00000388180.2:p.Pro2654Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7949,
          "referenceAllele": "C",
          "start": 7948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.7949C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Pro2650Arg",
        "hgvsWellDefined": "ENSP00000434583.1:p.Pro2650Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.589C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146570",
      "coordinates": [
        {
          "allele": "G",
          "end": 8010,
          "referenceAllele": "C",
          "start": 8009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.7961C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro2654Arg",
        "hgvsWellDefined": "NP_000436.2:p.Pro2654Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146566",
      "coordinates": [
        {
          "allele": "G",
          "end": 7895,
          "referenceAllele": "C",
          "start": 7894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.7838C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro2613Arg",
        "hgvsWellDefined": "NP_958780.1:p.Pro2613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146565",
      "coordinates": [
        {
          "allele": "G",
          "end": 7963,
          "referenceAllele": "C",
          "start": 7962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.7814C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro2605Arg",
        "hgvsWellDefined": "NP_958781.1:p.Pro2605Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146571",
      "coordinates": [
        {
          "allele": "G",
          "end": 8461,
          "referenceAllele": "C",
          "start": 8460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.8291C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro2764Arg",
        "hgvsWellDefined": "NP_958782.1:p.Pro2764Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146564",
      "coordinates": [
        {
          "allele": "G",
          "end": 7858,
          "referenceAllele": "C",
          "start": 7857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.7784C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro2595Arg",
        "hgvsWellDefined": "NP_958783.1:p.Pro2595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146567",
      "coordinates": [
        {
          "allele": "G",
          "end": 7948,
          "referenceAllele": "C",
          "start": 7947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.7880C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro2627Arg",
        "hgvsWellDefined": "NP_958784.1:p.Pro2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146569",
      "coordinates": [
        {
          "allele": "G",
          "end": 7901,
          "referenceAllele": "C",
          "start": 7900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.7892C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro2631Arg",
        "hgvsWellDefined": "NP_958785.1:p.Pro2631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146568",
      "coordinates": [
        {
          "allele": "G",
          "end": 8009,
          "referenceAllele": "C",
          "start": 8008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.7880C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro2627Arg",
        "hgvsWellDefined": "NP_958786.1:p.Pro2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8409,
          "referenceAllele": "C",
          "start": 8408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.8306C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro2769Arg",
        "hgvsWellDefined": "XP_005251033.1:p.Pro2769Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8009,
          "referenceAllele": "C",
          "start": 8008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.7907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro2636Arg",
        "hgvsWellDefined": "XP_005251035.1:p.Pro2636Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7952,
          "referenceAllele": "C",
          "start": 7951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.7895C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro2632Arg",
        "hgvsWellDefined": "XP_005251036.1:p.Pro2632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8042,
          "referenceAllele": "C",
          "start": 8041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.7895C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro2632Arg",
        "hgvsWellDefined": "XP_005251037.1:p.Pro2632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7895,
          "referenceAllele": "C",
          "start": 7894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.7853C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro2618Arg",
        "hgvsWellDefined": "XP_005251038.1:p.Pro2618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7894,
          "referenceAllele": "C",
          "start": 7893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.7829C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro2610Arg",
        "hgvsWellDefined": "XP_005251039.1:p.Pro2610Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7826,
          "referenceAllele": "C",
          "start": 7825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.7811C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Pro2604Arg",
        "hgvsWellDefined": "XP_005251040.1:p.Pro2604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7885,
          "referenceAllele": "C",
          "start": 7884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.7799C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro2600Arg",
        "hgvsWellDefined": "XP_005251041.1:p.Pro2600Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8072,
          "referenceAllele": "C",
          "start": 8071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.7976C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro2659Arg",
        "hgvsWellDefined": "XP_006716651.1:p.Pro2659Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7841,
          "referenceAllele": "C",
          "start": 7840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.7826C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Pro2609Arg",
        "hgvsWellDefined": "XP_006716652.1:p.Pro2609Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7841,
          "referenceAllele": "C",
          "start": 7840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.7826C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro2609Arg",
        "hgvsWellDefined": "XP_006716653.1:p.Pro2609Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7997,
          "referenceAllele": "C",
          "start": 7996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.7895C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro2632Arg",
        "hgvsWellDefined": "XP_011515432.1:p.Pro2632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7826,
          "referenceAllele": "C",
          "start": 7825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.7811C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro2604Arg",
        "hgvsWellDefined": "XP_011515433.1:p.Pro2604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4621,
          "referenceAllele": "C",
          "start": 4620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4526C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro1509Arg",
        "hgvsWellDefined": "XP_011515434.1:p.Pro1509Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8502,
          "referenceAllele": "C",
          "start": 8501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.8306C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Pro2769Arg",
        "hgvsWellDefined": "XP_005251033.1:p.Pro2769Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8028,
          "referenceAllele": "C",
          "start": 8027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.7907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Pro2636Arg",
        "hgvsWellDefined": "XP_005251035.1:p.Pro2636Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7987,
          "referenceAllele": "C",
          "start": 7986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.7895C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Pro2632Arg",
        "hgvsWellDefined": "XP_005251036.1:p.Pro2632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8072,
          "referenceAllele": "C",
          "start": 8071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.7895C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Pro2632Arg",
        "hgvsWellDefined": "XP_005251037.1:p.Pro2632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7909,
          "referenceAllele": "C",
          "start": 7908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.7853C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Pro2618Arg",
        "hgvsWellDefined": "XP_005251038.1:p.Pro2618Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7898,
          "referenceAllele": "C",
          "start": 7897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.7829C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Pro2610Arg",
        "hgvsWellDefined": "XP_005251039.1:p.Pro2610Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9306,
          "referenceAllele": "C",
          "start": 9305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.7799C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Pro2600Arg",
        "hgvsWellDefined": "XP_005251041.1:p.Pro2600Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8080,
          "referenceAllele": "C",
          "start": 8079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.7976C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Pro2659Arg",
        "hgvsWellDefined": "XP_006716651.1:p.Pro2659Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7951,
          "referenceAllele": "C",
          "start": 7950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.7826C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Pro2609Arg",
        "hgvsWellDefined": "XP_006716653.1:p.Pro2609Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8016,
          "referenceAllele": "C",
          "start": 8015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.7895C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Pro2632Arg",
        "hgvsWellDefined": "XP_011515432.1:p.Pro2632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7935,
          "referenceAllele": "C",
          "start": 7934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.7811C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Pro2604Arg",
        "hgvsWellDefined": "XP_011515433.1:p.Pro2604Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4643,
          "referenceAllele": "C",
          "start": 4642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4526C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Pro1509Arg",
        "hgvsWellDefined": "XP_011515434.1:p.Pro1509Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146570",
      "coordinates": [
        {
          "allele": "G",
          "end": 8010,
          "referenceAllele": "C",
          "start": 8009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.7961C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Pro2654Arg",
        "hgvsWellDefined": "NP_000436.2:p.Pro2654Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146566",
      "coordinates": [
        {
          "allele": "G",
          "end": 7895,
          "referenceAllele": "C",
          "start": 7894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.7838C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Pro2613Arg",
        "hgvsWellDefined": "NP_958780.1:p.Pro2613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.7838C>G"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.7838C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Pro2613Arg"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Pro2613Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA146565",
      "coordinates": [
        {
          "allele": "G",
          "end": 7877,
          "referenceAllele": "C",
          "start": 7876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.7814C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Pro2605Arg",
        "hgvsWellDefined": "NP_958781.1:p.Pro2605Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146571",
      "coordinates": [
        {
          "allele": "G",
          "end": 8511,
          "referenceAllele": "C",
          "start": 8510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.8291C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Pro2764Arg",
        "hgvsWellDefined": "NP_958782.1:p.Pro2764Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146564",
      "coordinates": [
        {
          "allele": "G",
          "end": 7891,
          "referenceAllele": "C",
          "start": 7890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.7784C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Pro2595Arg",
        "hgvsWellDefined": "NP_958783.1:p.Pro2595Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146567",
      "coordinates": [
        {
          "allele": "G",
          "end": 7975,
          "referenceAllele": "C",
          "start": 7974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.7880C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Pro2627Arg",
        "hgvsWellDefined": "NP_958784.1:p.Pro2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146569",
      "coordinates": [
        {
          "allele": "G",
          "end": 8001,
          "referenceAllele": "C",
          "start": 8000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.7892C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Pro2631Arg",
        "hgvsWellDefined": "NP_958785.1:p.Pro2631Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA146568",
      "coordinates": [
        {
          "allele": "G",
          "end": 8016,
          "referenceAllele": "C",
          "start": 8015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.7880C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Pro2627Arg",
        "hgvsWellDefined": "NP_958786.1:p.Pro2627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.7880C>G"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.7880C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Pro2627Arg"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Pro2627Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}