{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377642022",
  "communityStandardTitle": [
    "NM_016341.4(PLCE1):c.5342C>A (p.Ala1781Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96058310C>A?assembly=hg19",
        "id": "chr10:g.96058310C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94298553C>A?assembly=hg38",
        "id": "chr10:g.94298553C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 94298553,
          "referenceAllele": "C",
          "start": 94298552
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94298553C>A",
        "CM000672.2:g.94298553C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 96058310,
          "referenceAllele": "C",
          "start": 96058309
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96058310C>A",
        "CM000672.1:g.96058310C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 96048300,
          "referenceAllele": "C",
          "start": 96048299
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96048300C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309565,
          "referenceAllele": "C",
          "start": 309564
        }
      ],
      "hgvs": [
        "NG_015799.1:g.309565C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4418,
          "referenceAllele": "C",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.2:c.4418C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Ala1473Asp",
        "hgvsWellDefined": "ENSP00000360426.1:p.Ala1473Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5629,
          "referenceAllele": "C",
          "start": 5628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685253.1:c.*1885C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509405.1:n.*1885C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2077,
          "referenceAllele": "C",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685889.1:n.2077C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686807.1:n.761C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5819,
          "referenceAllele": "C",
          "start": 5818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686954.1:c.*626C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508416.1:n.*626C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4370,
          "referenceAllele": "C",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000688810.1:c.4370C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509140.1:p.Ala1457Asp",
        "hgvsWellDefined": "ENSP00000509140.1:p.Ala1457Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9550,
          "referenceAllele": "C",
          "start": 9549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000689233.1:n.9550C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3015,
          "referenceAllele": "C",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000690340.1:n.3015C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5540,
          "referenceAllele": "C",
          "start": 5539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692286.1:c.5210C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509490.1:p.Ala1737Asp",
        "hgvsWellDefined": "ENSP00000509490.1:p.Ala1737Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5883,
          "referenceAllele": "C",
          "start": 5882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692396.1:c.5294C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508605.1:p.Ala1765Asp",
        "hgvsWellDefined": "ENSP00000508605.1:p.Ala1765Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6034,
          "referenceAllele": "C",
          "start": 6033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.8:c.5342C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Ala1781Asp",
        "hgvsWellDefined": "ENSP00000360431.2:p.Ala1781Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5342C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5342C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Ala1781Asp"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Ala1781Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4371,
          "referenceAllele": "C",
          "start": 4370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.8:c.4316C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.4:p.Ala1439Asp",
        "hgvsWellDefined": "ENSP00000360438.4:p.Ala1439Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3897,
          "referenceAllele": "C",
          "start": 3896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674738.1:c.3897C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3458,
          "referenceAllele": "C",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674827.1:c.3458C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502523.1:p.Ala1153Asp",
        "hgvsWellDefined": "ENSP00000502523.1:p.Ala1153Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4418,
          "referenceAllele": "C",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675218.1:c.4418C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501910.1:p.Ala1473Asp",
        "hgvsWellDefined": "ENSP00000501910.1:p.Ala1473Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5575,
          "referenceAllele": "C",
          "start": 5574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675487.1:c.*1275C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502340.1:n.*1275C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4611,
          "referenceAllele": "C",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675718.1:c.4611C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5976,
          "referenceAllele": "C",
          "start": 5975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000260766.7:c.5342C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260766.3:p.Ala1781Asp",
        "hgvsWellDefined": "ENSP00000260766.3:p.Ala1781Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4418,
          "referenceAllele": "C",
          "start": 4417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.1:c.4418C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Ala1473Asp",
        "hgvsWellDefined": "ENSP00000360426.1:p.Ala1473Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5577,
          "referenceAllele": "C",
          "start": 5576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.7:c.5342C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Ala1781Asp",
        "hgvsWellDefined": "ENSP00000360431.2:p.Ala1781Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4487,
          "referenceAllele": "C",
          "start": 4486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.7:c.4418C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.3:p.Ala1473Asp",
        "hgvsWellDefined": "ENSP00000360438.3:p.Ala1473Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4487,
          "referenceAllele": "C",
          "start": 4486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001165979.2:c.4418C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159451.1:p.Ala1473Asp",
        "hgvsWellDefined": "NP_001159451.1:p.Ala1473Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5928,
          "referenceAllele": "C",
          "start": 5927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.1:c.5294C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Ala1765Asp",
        "hgvsWellDefined": "NP_001275918.1:p.Ala1765Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5976,
          "referenceAllele": "C",
          "start": 5975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.3:c.5342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Ala1781Asp",
        "hgvsWellDefined": "NP_057425.3:p.Ala1781Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5968,
          "referenceAllele": "C",
          "start": 5967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.2:c.5384C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Ala1795Asp",
        "hgvsWellDefined": "XP_006717948.1:p.Ala1795Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5968,
          "referenceAllele": "C",
          "start": 5967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717886.2:c.5384C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717949.1:p.Ala1795Asp",
        "hgvsWellDefined": "XP_006717949.1:p.Ala1795Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5965,
          "referenceAllele": "C",
          "start": 5964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.2:c.5381C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Ala1794Asp",
        "hgvsWellDefined": "XP_006717951.1:p.Ala1794Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5920,
          "referenceAllele": "C",
          "start": 5919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.2:c.5336C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Ala1779Asp",
        "hgvsWellDefined": "XP_006717952.1:p.Ala1779Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4482,
          "referenceAllele": "C",
          "start": 4481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.1:c.4460C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Ala1487Asp",
        "hgvsWellDefined": "XP_006717953.1:p.Ala1487Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5767,
          "referenceAllele": "C",
          "start": 5766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.1:c.5384C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Ala1795Asp",
        "hgvsWellDefined": "XP_011538151.1:p.Ala1795Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4264,
          "referenceAllele": "C",
          "start": 4263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.1:c.4229C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Ala1410Asp",
        "hgvsWellDefined": "XP_011538152.1:p.Ala1410Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5966,
          "referenceAllele": "C",
          "start": 5965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.4:c.5384C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Ala1795Asp",
        "hgvsWellDefined": "XP_006717948.1:p.Ala1795Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5963,
          "referenceAllele": "C",
          "start": 5962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.4:c.5381C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Ala1794Asp",
        "hgvsWellDefined": "XP_006717951.1:p.Ala1794Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5918,
          "referenceAllele": "C",
          "start": 5917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.4:c.5336C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Ala1779Asp",
        "hgvsWellDefined": "XP_006717952.1:p.Ala1779Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4482,
          "referenceAllele": "C",
          "start": 4481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.3:c.4460C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Ala1487Asp",
        "hgvsWellDefined": "XP_006717953.1:p.Ala1487Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7123,
          "referenceAllele": "C",
          "start": 7122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.3:c.5384C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Ala1795Asp",
        "hgvsWellDefined": "XP_011538151.1:p.Ala1795Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5611,
          "referenceAllele": "C",
          "start": 5610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.3:c.4229C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Ala1410Asp",
        "hgvsWellDefined": "XP_011538152.1:p.Ala1410Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6013,
          "referenceAllele": "C",
          "start": 6012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016310.2:c.5384C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871799.1:p.Ala1795Asp",
        "hgvsWellDefined": "XP_016871799.1:p.Ala1795Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5966,
          "referenceAllele": "C",
          "start": 5965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016311.2:c.5384C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871800.1:p.Ala1795Asp",
        "hgvsWellDefined": "XP_016871800.1:p.Ala1795Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4392,
          "referenceAllele": "C",
          "start": 4391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016312.2:c.4370C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871801.1:p.Ala1457Asp",
        "hgvsWellDefined": "XP_016871801.1:p.Ala1457Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5986,
          "referenceAllele": "C",
          "start": 5985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.2:c.5294C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Ala1765Asp",
        "hgvsWellDefined": "NP_001275918.1:p.Ala1765Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6034,
          "referenceAllele": "C",
          "start": 6033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.5342C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Ala1781Asp",
        "hgvsWellDefined": "NP_057425.3:p.Ala1781Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5342C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5342C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Ala1781Asp"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Ala1781Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}