{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377641786",
  "communityStandardTitle": [
    "NM_016341.4(PLCE1):c.5234T>A (p.Leu1745His)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96058202T>A?assembly=hg19",
        "id": "chr10:g.96058202T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94298445T>A?assembly=hg38",
        "id": "chr10:g.94298445T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 94298445,
          "referenceAllele": "T",
          "start": 94298444
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94298445T>A",
        "CM000672.2:g.94298445T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 96058202,
          "referenceAllele": "T",
          "start": 96058201
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96058202T>A",
        "CM000672.1:g.96058202T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 96048192,
          "referenceAllele": "T",
          "start": 96048191
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96048192T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309457,
          "referenceAllele": "T",
          "start": 309456
        }
      ],
      "hgvs": [
        "NG_015799.1:g.309457T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4310,
          "referenceAllele": "T",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.2:c.4310T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Leu1437His",
        "hgvsWellDefined": "ENSP00000360426.1:p.Leu1437His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5521,
          "referenceAllele": "T",
          "start": 5520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685253.1:c.*1777T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509405.1:n.*1777T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "T",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685889.1:n.1969T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "referenceAllele": "T",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686807.1:n.653T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5711,
          "referenceAllele": "T",
          "start": 5710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686954.1:c.*518T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508416.1:n.*518T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4262,
          "referenceAllele": "T",
          "start": 4261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000688810.1:c.4262T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509140.1:p.Leu1421His",
        "hgvsWellDefined": "ENSP00000509140.1:p.Leu1421His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9442,
          "referenceAllele": "T",
          "start": 9441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000689233.1:n.9442T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2907,
          "referenceAllele": "T",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000690340.1:n.2907T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5432,
          "referenceAllele": "T",
          "start": 5431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692286.1:c.5102T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509490.1:p.Leu1701His",
        "hgvsWellDefined": "ENSP00000509490.1:p.Leu1701His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5775,
          "referenceAllele": "T",
          "start": 5774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692396.1:c.5186T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508605.1:p.Leu1729His",
        "hgvsWellDefined": "ENSP00000508605.1:p.Leu1729His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5926,
          "referenceAllele": "T",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.8:c.5234T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Leu1745His",
        "hgvsWellDefined": "ENSP00000360431.2:p.Leu1745His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5234T>A"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5234T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Leu1745His"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Leu1745His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4263,
          "referenceAllele": "T",
          "start": 4262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.8:c.4208T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.4:p.Leu1403His",
        "hgvsWellDefined": "ENSP00000360438.4:p.Leu1403His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3789,
          "referenceAllele": "T",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674738.1:c.3789T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3350,
          "referenceAllele": "T",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674827.1:c.3350T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502523.1:p.Leu1117His",
        "hgvsWellDefined": "ENSP00000502523.1:p.Leu1117His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4310,
          "referenceAllele": "T",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675218.1:c.4310T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501910.1:p.Leu1437His",
        "hgvsWellDefined": "ENSP00000501910.1:p.Leu1437His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5467,
          "referenceAllele": "T",
          "start": 5466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675487.1:c.*1167T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502340.1:n.*1167T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4503,
          "referenceAllele": "T",
          "start": 4502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675718.1:c.4503T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4134,
          "referenceAllele": "T",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000676102.1:c.4079T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502811.1:p.Leu1360His",
        "hgvsWellDefined": "ENSP00000502811.1:p.Leu1360His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5868,
          "referenceAllele": "T",
          "start": 5867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000260766.7:c.5234T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260766.3:p.Leu1745His",
        "hgvsWellDefined": "ENSP00000260766.3:p.Leu1745His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4310,
          "referenceAllele": "T",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.1:c.4310T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Leu1437His",
        "hgvsWellDefined": "ENSP00000360426.1:p.Leu1437His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5469,
          "referenceAllele": "T",
          "start": 5468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.7:c.5234T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Leu1745His",
        "hgvsWellDefined": "ENSP00000360431.2:p.Leu1745His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4379,
          "referenceAllele": "T",
          "start": 4378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.7:c.4310T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.3:p.Leu1437His",
        "hgvsWellDefined": "ENSP00000360438.3:p.Leu1437His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4379,
          "referenceAllele": "T",
          "start": 4378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001165979.2:c.4310T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159451.1:p.Leu1437His",
        "hgvsWellDefined": "NP_001159451.1:p.Leu1437His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5820,
          "referenceAllele": "T",
          "start": 5819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.1:c.5186T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Leu1729His",
        "hgvsWellDefined": "NP_001275918.1:p.Leu1729His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5868,
          "referenceAllele": "T",
          "start": 5867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.3:c.5234T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Leu1745His",
        "hgvsWellDefined": "NP_057425.3:p.Leu1745His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "T",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.2:c.5276T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Leu1759His",
        "hgvsWellDefined": "XP_006717948.1:p.Leu1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "T",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717886.2:c.5276T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717949.1:p.Leu1759His",
        "hgvsWellDefined": "XP_006717949.1:p.Leu1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5857,
          "referenceAllele": "T",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.2:c.5273T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Leu1758His",
        "hgvsWellDefined": "XP_006717951.1:p.Leu1758His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5812,
          "referenceAllele": "T",
          "start": 5811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.2:c.5228T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Leu1743His",
        "hgvsWellDefined": "XP_006717952.1:p.Leu1743His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4374,
          "referenceAllele": "T",
          "start": 4373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.1:c.4352T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Leu1451His",
        "hgvsWellDefined": "XP_006717953.1:p.Leu1451His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5659,
          "referenceAllele": "T",
          "start": 5658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.1:c.5276T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Leu1759His",
        "hgvsWellDefined": "XP_011538151.1:p.Leu1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4156,
          "referenceAllele": "T",
          "start": 4155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.1:c.4121T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Leu1374His",
        "hgvsWellDefined": "XP_011538152.1:p.Leu1374His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5858,
          "referenceAllele": "T",
          "start": 5857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.4:c.5276T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Leu1759His",
        "hgvsWellDefined": "XP_006717948.1:p.Leu1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5855,
          "referenceAllele": "T",
          "start": 5854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.4:c.5273T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Leu1758His",
        "hgvsWellDefined": "XP_006717951.1:p.Leu1758His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5810,
          "referenceAllele": "T",
          "start": 5809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.4:c.5228T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Leu1743His",
        "hgvsWellDefined": "XP_006717952.1:p.Leu1743His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4374,
          "referenceAllele": "T",
          "start": 4373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.3:c.4352T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Leu1451His",
        "hgvsWellDefined": "XP_006717953.1:p.Leu1451His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7015,
          "referenceAllele": "T",
          "start": 7014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.3:c.5276T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Leu1759His",
        "hgvsWellDefined": "XP_011538151.1:p.Leu1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5503,
          "referenceAllele": "T",
          "start": 5502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.3:c.4121T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Leu1374His",
        "hgvsWellDefined": "XP_011538152.1:p.Leu1374His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5905,
          "referenceAllele": "T",
          "start": 5904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016310.2:c.5276T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871799.1:p.Leu1759His",
        "hgvsWellDefined": "XP_016871799.1:p.Leu1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5858,
          "referenceAllele": "T",
          "start": 5857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016311.2:c.5276T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871800.1:p.Leu1759His",
        "hgvsWellDefined": "XP_016871800.1:p.Leu1759His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4284,
          "referenceAllele": "T",
          "start": 4283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016312.2:c.4262T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871801.1:p.Leu1421His",
        "hgvsWellDefined": "XP_016871801.1:p.Leu1421His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5878,
          "referenceAllele": "T",
          "start": 5877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.2:c.5186T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Leu1729His",
        "hgvsWellDefined": "NP_001275918.1:p.Leu1729His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5926,
          "referenceAllele": "T",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.5234T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Leu1745His",
        "hgvsWellDefined": "NP_057425.3:p.Leu1745His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5234T>A"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5234T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Leu1745His"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Leu1745His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}