{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4925917",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4843682",
        "active": true,
        "id": "COSM4843682"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4843683",
        "active": true,
        "id": "COSM4843683"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4843684",
        "active": true,
        "id": "COSM4843684"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4843685",
        "active": true,
        "id": "COSM4843685"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4843686",
        "active": true,
        "id": "COSM4843686"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4843687",
        "active": true,
        "id": "COSM4843687"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4843688",
        "active": true,
        "id": "COSM4843688"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=457920[alleleid]",
        "alleleId": 457920,
        "preferredName": "NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471633",
        "RCV": [
          "RCV000553328",
          "RCV000595655",
          "RCV000727531"
        ],
        "variationId": 471633
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144997455-C-T",
        "id": "8-144997455-C-T",
        "variant": "8:144997455 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144997455C>T?assembly=hg19",
        "id": "chr8:g.144997455C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143923287C>T?assembly=hg38",
        "id": "chr8:g.143923287C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/559736151",
        "rs": 559736151
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144997455-C-T?dataset=gnomad_r2_1",
        "id": "8-144997455-C-T",
        "variant": "8:144997455 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143923287-C-T?dataset=gnomad_r3",
        "id": "8-143923287-C-T",
        "variant": "8:143923287 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143923287-C-T?dataset=gnomad_r4",
        "id": "8-143923287-C-T",
        "variant": "8:143923287 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143923287,
          "referenceAllele": "C",
          "start": 143923286
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143923287C>T",
        "CM000670.2:g.143923287C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144997455,
          "referenceAllele": "C",
          "start": 144997454
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144997455C>T",
        "CM000670.1:g.144997455C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145069443,
          "referenceAllele": "C",
          "start": 145069442
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145069443C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58459,
          "referenceAllele": "G",
          "start": 58458
        }
      ],
      "hgvs": [
        "NG_012492.1:g.58459G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6780,
          "referenceAllele": "G",
          "start": 6779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.6774G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Ala2258="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6735,
          "referenceAllele": "G",
          "start": 6734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.6693G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Ala2231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6693,
          "referenceAllele": "G",
          "start": 6692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.6360G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Ala2120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6586,
          "referenceAllele": "G",
          "start": 6585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.6573G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Ala2191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6778,
          "referenceAllele": "G",
          "start": 6777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.6642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala2214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.6642G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.6642G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala2214="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala2214="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4163,
          "endIntronDirection": "-",
          "endIntronOffset": 891,
          "referenceAllele": "G",
          "start": 4163,
          "startIntronDirection": "-",
          "startIntronOffset": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.4126-892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:n.4126-892G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7223,
          "referenceAllele": "G",
          "start": 7222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.7053G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Ala2351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6771,
          "referenceAllele": "G",
          "start": 6770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.6642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Ala2214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6710,
          "referenceAllele": "G",
          "start": 6709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.6642G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Ala2214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6725,
          "referenceAllele": "G",
          "start": 6724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.6576G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Ala2192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6657,
          "referenceAllele": "G",
          "start": 6656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.6600G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Ala2200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.6600G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.6600G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala2200="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala2200="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6663,
          "referenceAllele": "G",
          "start": 6662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.6654G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Ala2218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6620,
          "referenceAllele": "G",
          "start": 6619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.6546G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Ala2182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6761,
          "referenceAllele": "G",
          "start": 6760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.6723G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Ala2241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6711,
          "referenceAllele": "G",
          "start": 6710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.6711G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Ala2237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "endIntronDirection": "-",
          "endIntronOffset": 891,
          "referenceAllele": "G",
          "start": 134,
          "startIntronDirection": "-",
          "startIntronOffset": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.1:c.135-892G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174577",
      "coordinates": [
        {
          "allele": "A",
          "end": 6772,
          "referenceAllele": "G",
          "start": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.6723G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala2241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830478611",
      "coordinates": [
        {
          "allele": "A",
          "end": 6657,
          "referenceAllele": "G",
          "start": 6656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.6600G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala2200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830485388",
      "coordinates": [
        {
          "allele": "A",
          "end": 6725,
          "referenceAllele": "G",
          "start": 6724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.6576G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala2192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488958",
      "coordinates": [
        {
          "allele": "A",
          "end": 7223,
          "referenceAllele": "G",
          "start": 7222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.7053G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala2351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492046",
      "coordinates": [
        {
          "allele": "A",
          "end": 6620,
          "referenceAllele": "G",
          "start": 6619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.6546G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala2182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496684",
      "coordinates": [
        {
          "allele": "A",
          "end": 6710,
          "referenceAllele": "G",
          "start": 6709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.6642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala2214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501293",
      "coordinates": [
        {
          "allele": "A",
          "end": 6663,
          "referenceAllele": "G",
          "start": 6662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.6654G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala2218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505928",
      "coordinates": [
        {
          "allele": "A",
          "end": 6771,
          "referenceAllele": "G",
          "start": 6770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.6642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala2214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7171,
          "referenceAllele": "G",
          "start": 7170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.7068G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala2356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6771,
          "referenceAllele": "G",
          "start": 6770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.6669G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala2223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6714,
          "referenceAllele": "G",
          "start": 6713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.6657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala2219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6804,
          "referenceAllele": "G",
          "start": 6803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.6657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala2219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6657,
          "referenceAllele": "G",
          "start": 6656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.6615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala2205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6656,
          "referenceAllele": "G",
          "start": 6655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.6591G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala2197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6588,
          "referenceAllele": "G",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.6573G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Ala2191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6647,
          "referenceAllele": "G",
          "start": 6646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.6561G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala2187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6834,
          "referenceAllele": "G",
          "start": 6833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.6738G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala2246="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6603,
          "referenceAllele": "G",
          "start": 6602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.6588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Ala2196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6603,
          "referenceAllele": "G",
          "start": 6602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.6588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala2196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6759,
          "referenceAllele": "G",
          "start": 6758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.6657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala2219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6588,
          "referenceAllele": "G",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.6573G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala2191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4166,
          "endIntronDirection": "-",
          "endIntronOffset": 891,
          "referenceAllele": "G",
          "start": 4166,
          "startIntronDirection": "-",
          "startIntronOffset": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4072-892G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-892G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7264,
          "referenceAllele": "G",
          "start": 7263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.7068G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Ala2356="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6790,
          "referenceAllele": "G",
          "start": 6789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.6669G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Ala2223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6749,
          "referenceAllele": "G",
          "start": 6748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.6657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Ala2219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6834,
          "referenceAllele": "G",
          "start": 6833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.6657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Ala2219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6671,
          "referenceAllele": "G",
          "start": 6670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.6615G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Ala2205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6660,
          "referenceAllele": "G",
          "start": 6659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.6591G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Ala2197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8068,
          "referenceAllele": "G",
          "start": 8067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.6561G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Ala2187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6842,
          "referenceAllele": "G",
          "start": 6841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.6738G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Ala2246="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6713,
          "referenceAllele": "G",
          "start": 6712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.6588G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Ala2196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6778,
          "referenceAllele": "G",
          "start": 6777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.6657G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Ala2219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6697,
          "referenceAllele": "G",
          "start": 6696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.6573G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Ala2191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4188,
          "endIntronDirection": "-",
          "endIntronOffset": 891,
          "referenceAllele": "G",
          "start": 4188,
          "startIntronDirection": "-",
          "startIntronOffset": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4072-892G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:n.4072-892G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825174577",
      "coordinates": [
        {
          "allele": "A",
          "end": 6772,
          "referenceAllele": "G",
          "start": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.6723G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Ala2241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830478611",
      "coordinates": [
        {
          "allele": "A",
          "end": 6657,
          "referenceAllele": "G",
          "start": 6656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.6600G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Ala2200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.6600G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.6600G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Ala2200="
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Ala2200="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830485388",
      "coordinates": [
        {
          "allele": "A",
          "end": 6639,
          "referenceAllele": "G",
          "start": 6638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.6576G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Ala2192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830488958",
      "coordinates": [
        {
          "allele": "A",
          "end": 7273,
          "referenceAllele": "G",
          "start": 7272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.7053G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Ala2351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492046",
      "coordinates": [
        {
          "allele": "A",
          "end": 6653,
          "referenceAllele": "G",
          "start": 6652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.6546G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Ala2182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830496684",
      "coordinates": [
        {
          "allele": "A",
          "end": 6737,
          "referenceAllele": "G",
          "start": 6736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.6642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Ala2214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501293",
      "coordinates": [
        {
          "allele": "A",
          "end": 6763,
          "referenceAllele": "G",
          "start": 6762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.6654G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Ala2218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830505928",
      "coordinates": [
        {
          "allele": "A",
          "end": 6778,
          "referenceAllele": "G",
          "start": 6777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.6642G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Ala2214="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.6642G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.6642G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Ala2214="
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Ala2214="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}