{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4925363",
  "communityStandardTitle": [
    "NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441193[alleleid]",
        "alleleId": 441193,
        "preferredName": "NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448078",
        "RCV": [
          "RCV000730507",
          "RCV000648520",
          "RCV002252149",
          "RCV000518817"
        ],
        "variationId": 448078
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-144995674-C-T",
        "id": "8-144995674-C-T",
        "variant": "8:144995674 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144995674C>T?assembly=hg19",
        "id": "chr8:g.144995674C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143921506C>T?assembly=hg38",
        "id": "chr8:g.143921506C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201916690",
        "rs": 201916690
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144995674-C-T?dataset=gnomad_r2_1",
        "id": "8-144995674-C-T",
        "variant": "8:144995674 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143921506-C-T?dataset=gnomad_r3",
        "id": "8-143921506-C-T",
        "variant": "8:143921506 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143921506-C-T?dataset=gnomad_r4",
        "id": "8-143921506-C-T",
        "variant": "8:143921506 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 143921506,
          "referenceAllele": "C",
          "start": 143921505
        }
      ],
      "hgvs": [
        "NC_000008.11:g.143921506C>T",
        "CM000670.2:g.143921506C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144995674,
          "referenceAllele": "C",
          "start": 144995673
        }
      ],
      "hgvs": [
        "NC_000008.10:g.144995674C>T",
        "CM000670.1:g.144995674C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145067662,
          "referenceAllele": "C",
          "start": 145067661
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145067662C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 60240,
          "referenceAllele": "G",
          "start": 60239
        }
      ],
      "hgvs": [
        "NG_012492.1:g.60240G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002420"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8453,
          "referenceAllele": "G",
          "start": 8452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000528025.6:c.8447G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437303.2:p.Arg2816His",
        "hgvsWellDefined": "ENSP00000437303.2:p.Arg2816His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8408,
          "referenceAllele": "G",
          "start": 8407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000685198.1:c.8366G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510528.1:p.Arg2789His",
        "hgvsWellDefined": "ENSP00000510528.1:p.Arg2789His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8366,
          "referenceAllele": "G",
          "start": 8365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000687971.1:c.8033G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510788.1:p.Arg2678His",
        "hgvsWellDefined": "ENSP00000510788.1:p.Arg2678His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8259,
          "referenceAllele": "G",
          "start": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000693060.1:c.8246G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510329.1:p.Arg2749His",
        "hgvsWellDefined": "ENSP00000510329.1:p.Arg2749His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8451,
          "referenceAllele": "G",
          "start": 8450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.8:c.8315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg2772His",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg2772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748278",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.8315G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.8315G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg2772His"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg2772His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5053,
          "referenceAllele": "G",
          "start": 5052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527303.2:c.5015G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433982.2:p.Arg1672His",
        "hgvsWellDefined": "ENSP00000433982.2:p.Arg1672His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8896,
          "referenceAllele": "G",
          "start": 8895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000322810.8:c.8726G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323856.4:p.Arg2909His",
        "hgvsWellDefined": "ENSP00000323856.4:p.Arg2909His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8444,
          "referenceAllele": "G",
          "start": 8443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000345136.7:c.8315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344848.3:p.Arg2772His",
        "hgvsWellDefined": "ENSP00000344848.3:p.Arg2772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8383,
          "referenceAllele": "G",
          "start": 8382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354589.7:c.8315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346602.3:p.Arg2772His",
        "hgvsWellDefined": "ENSP00000346602.3:p.Arg2772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8398,
          "referenceAllele": "G",
          "start": 8397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000354958.6:c.8249G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347044.2:p.Arg2750His",
        "hgvsWellDefined": "ENSP00000347044.2:p.Arg2750His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8330,
          "referenceAllele": "G",
          "start": 8329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000356346.7:c.8273G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348702.3:p.Arg2758His",
        "hgvsWellDefined": "ENSP00000348702.3:p.Arg2758His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.8273G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.8273G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg2758His"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg2758His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8336,
          "referenceAllele": "G",
          "start": 8335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000357649.6:c.8327G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350277.2:p.Arg2776His",
        "hgvsWellDefined": "ENSP00000350277.2:p.Arg2776His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8293,
          "referenceAllele": "G",
          "start": 8292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000398774.6:c.8219G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381756.2:p.Arg2740His",
        "hgvsWellDefined": "ENSP00000381756.2:p.Arg2740His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8434,
          "referenceAllele": "G",
          "start": 8433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000436759.6:c.8396G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388180.2:p.Arg2799His",
        "hgvsWellDefined": "ENSP00000388180.2:p.Arg2799His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8384,
          "referenceAllele": "G",
          "start": 8383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "ENST00000527096.5:c.8384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434583.1:p.Arg2795His",
        "hgvsWellDefined": "ENSP00000434583.1:p.Arg2795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175165",
      "coordinates": [
        {
          "allele": "A",
          "end": 8445,
          "referenceAllele": "G",
          "start": 8444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.4:c.8396G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg2799His",
        "hgvsWellDefined": "NP_000436.2:p.Arg2799His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479498",
      "coordinates": [
        {
          "allele": "A",
          "end": 8330,
          "referenceAllele": "G",
          "start": 8329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.3:c.8273G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg2758His",
        "hgvsWellDefined": "NP_958780.1:p.Arg2758His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486243",
      "coordinates": [
        {
          "allele": "A",
          "end": 8398,
          "referenceAllele": "G",
          "start": 8397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.2:c.8249G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg2750His",
        "hgvsWellDefined": "NP_958781.1:p.Arg2750His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669582",
      "coordinates": [
        {
          "allele": "A",
          "end": 8896,
          "referenceAllele": "G",
          "start": 8895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.3:c.8726G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg2909His",
        "hgvsWellDefined": "NP_958782.1:p.Arg2909His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492633",
      "coordinates": [
        {
          "allele": "A",
          "end": 8293,
          "referenceAllele": "G",
          "start": 8292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.2:c.8219G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg2740His",
        "hgvsWellDefined": "NP_958783.1:p.Arg2740His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497271",
      "coordinates": [
        {
          "allele": "A",
          "end": 8383,
          "referenceAllele": "G",
          "start": 8382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.3:c.8315G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg2772His",
        "hgvsWellDefined": "NP_958784.1:p.Arg2772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501880",
      "coordinates": [
        {
          "allele": "A",
          "end": 8336,
          "referenceAllele": "G",
          "start": 8335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.2:c.8327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg2776His",
        "hgvsWellDefined": "NP_958785.1:p.Arg2776His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506516",
      "coordinates": [
        {
          "allele": "A",
          "end": 8444,
          "referenceAllele": "G",
          "start": 8443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.2:c.8315G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg2772His",
        "hgvsWellDefined": "NP_958786.1:p.Arg2772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8844,
          "referenceAllele": "G",
          "start": 8843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.2:c.8741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg2914His",
        "hgvsWellDefined": "XP_005251033.1:p.Arg2914His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8444,
          "referenceAllele": "G",
          "start": 8443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.2:c.8342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg2781His",
        "hgvsWellDefined": "XP_005251035.1:p.Arg2781His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8387,
          "referenceAllele": "G",
          "start": 8386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.3:c.8330G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg2777His",
        "hgvsWellDefined": "XP_005251036.1:p.Arg2777His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8477,
          "referenceAllele": "G",
          "start": 8476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.3:c.8330G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg2777His",
        "hgvsWellDefined": "XP_005251037.1:p.Arg2777His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8330,
          "referenceAllele": "G",
          "start": 8329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.2:c.8288G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg2763His",
        "hgvsWellDefined": "XP_005251038.1:p.Arg2763His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8329,
          "referenceAllele": "G",
          "start": 8328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.2:c.8264G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg2755His",
        "hgvsWellDefined": "XP_005251039.1:p.Arg2755His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8261,
          "referenceAllele": "G",
          "start": 8260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250983.2:c.8246G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251040.1:p.Arg2749His",
        "hgvsWellDefined": "XP_005251040.1:p.Arg2749His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8320,
          "referenceAllele": "G",
          "start": 8319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.3:c.8234G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg2745His",
        "hgvsWellDefined": "XP_005251041.1:p.Arg2745His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8507,
          "referenceAllele": "G",
          "start": 8506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.2:c.8411G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg2804His",
        "hgvsWellDefined": "XP_006716651.1:p.Arg2804His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8276,
          "referenceAllele": "G",
          "start": 8275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716589.2:c.8261G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716652.1:p.Arg2754His",
        "hgvsWellDefined": "XP_006716652.1:p.Arg2754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8276,
          "referenceAllele": "G",
          "start": 8275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.2:c.8261G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg2754His",
        "hgvsWellDefined": "XP_006716653.1:p.Arg2754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8432,
          "referenceAllele": "G",
          "start": 8431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.1:c.8330G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg2777His",
        "hgvsWellDefined": "XP_011515432.1:p.Arg2777His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8261,
          "referenceAllele": "G",
          "start": 8260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.1:c.8246G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg2749His",
        "hgvsWellDefined": "XP_011515433.1:p.Arg2749His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5056,
          "referenceAllele": "G",
          "start": 5055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.1:c.4961G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1654His",
        "hgvsWellDefined": "XP_011515434.1:p.Arg1654His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8937,
          "referenceAllele": "G",
          "start": 8936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250976.4:c.8741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251033.1:p.Arg2914His",
        "hgvsWellDefined": "XP_005251033.1:p.Arg2914His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8463,
          "referenceAllele": "G",
          "start": 8462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250978.3:c.8342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251035.1:p.Arg2781His",
        "hgvsWellDefined": "XP_005251035.1:p.Arg2781His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8422,
          "referenceAllele": "G",
          "start": 8421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250979.4:c.8330G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251036.1:p.Arg2777His",
        "hgvsWellDefined": "XP_005251036.1:p.Arg2777His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8507,
          "referenceAllele": "G",
          "start": 8506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250980.4:c.8330G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251037.1:p.Arg2777His",
        "hgvsWellDefined": "XP_005251037.1:p.Arg2777His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8344,
          "referenceAllele": "G",
          "start": 8343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250981.3:c.8288G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251038.1:p.Arg2763His",
        "hgvsWellDefined": "XP_005251038.1:p.Arg2763His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8333,
          "referenceAllele": "G",
          "start": 8332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250982.4:c.8264G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251039.1:p.Arg2755His",
        "hgvsWellDefined": "XP_005251039.1:p.Arg2755His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9741,
          "referenceAllele": "G",
          "start": 9740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_005250984.5:c.8234G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251041.1:p.Arg2745His",
        "hgvsWellDefined": "XP_005251041.1:p.Arg2745His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8515,
          "referenceAllele": "G",
          "start": 8514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716588.3:c.8411G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716651.1:p.Arg2804His",
        "hgvsWellDefined": "XP_006716651.1:p.Arg2804His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8386,
          "referenceAllele": "G",
          "start": 8385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_006716590.3:c.8261G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716653.1:p.Arg2754His",
        "hgvsWellDefined": "XP_006716653.1:p.Arg2754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8451,
          "referenceAllele": "G",
          "start": 8450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517130.2:c.8330G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515432.1:p.Arg2777His",
        "hgvsWellDefined": "XP_011515432.1:p.Arg2777His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8370,
          "referenceAllele": "G",
          "start": 8369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517131.2:c.8246G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515433.1:p.Arg2749His",
        "hgvsWellDefined": "XP_011515433.1:p.Arg2749His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5078,
          "referenceAllele": "G",
          "start": 5077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "XM_011517132.2:c.4961G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515434.1:p.Arg1654His",
        "hgvsWellDefined": "XP_011515434.1:p.Arg1654His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825175165",
      "coordinates": [
        {
          "allele": "A",
          "end": 8445,
          "referenceAllele": "G",
          "start": 8444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_000445.5:c.8396G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000436.2:p.Arg2799His",
        "hgvsWellDefined": "NP_000436.2:p.Arg2799His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830479498",
      "coordinates": [
        {
          "allele": "A",
          "end": 8330,
          "referenceAllele": "G",
          "start": 8329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201378.4:c.8273G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958780.1:p.Arg2758His",
        "hgvsWellDefined": "NP_958780.1:p.Arg2758His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356346.7:c.8273G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201378.4:c.8273G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348702.3:p.Arg2758His"
          },
          "RefSeq": {
            "hgvs": "NP_958780.1:p.Arg2758His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830486243",
      "coordinates": [
        {
          "allele": "A",
          "end": 8312,
          "referenceAllele": "G",
          "start": 8311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201379.3:c.8249G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958781.1:p.Arg2750His",
        "hgvsWellDefined": "NP_958781.1:p.Arg2750His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669582",
      "coordinates": [
        {
          "allele": "A",
          "end": 8946,
          "referenceAllele": "G",
          "start": 8945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201380.4:c.8726G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958782.1:p.Arg2909His",
        "hgvsWellDefined": "NP_958782.1:p.Arg2909His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830492633",
      "coordinates": [
        {
          "allele": "A",
          "end": 8326,
          "referenceAllele": "G",
          "start": 8325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201381.3:c.8219G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958783.1:p.Arg2740His",
        "hgvsWellDefined": "NP_958783.1:p.Arg2740His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830497271",
      "coordinates": [
        {
          "allele": "A",
          "end": 8410,
          "referenceAllele": "G",
          "start": 8409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201382.4:c.8315G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958784.1:p.Arg2772His",
        "hgvsWellDefined": "NP_958784.1:p.Arg2772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830501880",
      "coordinates": [
        {
          "allele": "A",
          "end": 8436,
          "referenceAllele": "G",
          "start": 8435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.8327G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:p.Arg2776His",
        "hgvsWellDefined": "NP_958785.1:p.Arg2776His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830506516",
      "coordinates": [
        {
          "allele": "A",
          "end": 8451,
          "referenceAllele": "G",
          "start": 8450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.8315G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:p.Arg2772His",
        "hgvsWellDefined": "NP_958786.1:p.Arg2772His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.8315G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.8315G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:p.Arg2772His"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:p.Arg2772His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}