{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377641793",
  "communityStandardTitle": [
    "NM_016341.4(PLCE1):c.5237G>A (p.Ser1746Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96058205G>A?assembly=hg19",
        "id": "chr10:g.96058205G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.94298448G>A?assembly=hg38",
        "id": "chr10:g.94298448G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 94298448,
          "referenceAllele": "G",
          "start": 94298447
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94298448G>A",
        "CM000672.2:g.94298448G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 96058205,
          "referenceAllele": "G",
          "start": 96058204
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96058205G>A",
        "CM000672.1:g.96058205G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 96048195,
          "referenceAllele": "G",
          "start": 96048194
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96048195G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309460,
          "referenceAllele": "G",
          "start": 309459
        }
      ],
      "hgvs": [
        "NG_015799.1:g.309460G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002831"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.2:c.4313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Ser1438Asn",
        "hgvsWellDefined": "ENSP00000360426.1:p.Ser1438Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5524,
          "referenceAllele": "G",
          "start": 5523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685253.1:c.*1780G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509405.1:n.*1780G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1972,
          "referenceAllele": "G",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000685889.1:n.1972G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686807.1:n.656G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5714,
          "referenceAllele": "G",
          "start": 5713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000686954.1:c.*521G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508416.1:n.*521G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4265,
          "referenceAllele": "G",
          "start": 4264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000688810.1:c.4265G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509140.1:p.Ser1422Asn",
        "hgvsWellDefined": "ENSP00000509140.1:p.Ser1422Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9445,
          "referenceAllele": "G",
          "start": 9444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000689233.1:n.9445G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2910,
          "referenceAllele": "G",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000690340.1:n.2910G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5435,
          "referenceAllele": "G",
          "start": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692286.1:c.5105G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509490.1:p.Ser1702Asn",
        "hgvsWellDefined": "ENSP00000509490.1:p.Ser1702Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5778,
          "referenceAllele": "G",
          "start": 5777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000692396.1:c.5189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508605.1:p.Ser1730Asn",
        "hgvsWellDefined": "ENSP00000508605.1:p.Ser1730Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5929,
          "referenceAllele": "G",
          "start": 5928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.8:c.5237G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Ser1746Asn",
        "hgvsWellDefined": "ENSP00000360431.2:p.Ser1746Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5237G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5237G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Ser1746Asn"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Ser1746Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4266,
          "referenceAllele": "G",
          "start": 4265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.8:c.4211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.4:p.Ser1404Asn",
        "hgvsWellDefined": "ENSP00000360438.4:p.Ser1404Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3792,
          "referenceAllele": "G",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674738.1:c.3792G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3353,
          "referenceAllele": "G",
          "start": 3352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000674827.1:c.3353G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502523.1:p.Ser1118Asn",
        "hgvsWellDefined": "ENSP00000502523.1:p.Ser1118Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675218.1:c.4313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501910.1:p.Ser1438Asn",
        "hgvsWellDefined": "ENSP00000501910.1:p.Ser1438Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5470,
          "referenceAllele": "G",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675487.1:c.*1170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502340.1:n.*1170G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4506,
          "referenceAllele": "G",
          "start": 4505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000675718.1:c.4506G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4137,
          "referenceAllele": "G",
          "start": 4136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000676102.1:c.4082G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502811.1:p.Ser1361Asn",
        "hgvsWellDefined": "ENSP00000502811.1:p.Ser1361Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5871,
          "referenceAllele": "G",
          "start": 5870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000260766.7:c.5237G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260766.3:p.Ser1746Asn",
        "hgvsWellDefined": "ENSP00000260766.3:p.Ser1746Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4313,
          "referenceAllele": "G",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371375.1:c.4313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360426.1:p.Ser1438Asn",
        "hgvsWellDefined": "ENSP00000360426.1:p.Ser1438Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5472,
          "referenceAllele": "G",
          "start": 5471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371380.7:c.5237G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360431.2:p.Ser1746Asn",
        "hgvsWellDefined": "ENSP00000360431.2:p.Ser1746Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4382,
          "referenceAllele": "G",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "ENST00000371385.7:c.4313G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360438.3:p.Ser1438Asn",
        "hgvsWellDefined": "ENSP00000360438.3:p.Ser1438Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4382,
          "referenceAllele": "G",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001165979.2:c.4313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159451.1:p.Ser1438Asn",
        "hgvsWellDefined": "NP_001159451.1:p.Ser1438Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5823,
          "referenceAllele": "G",
          "start": 5822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.1:c.5189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Ser1730Asn",
        "hgvsWellDefined": "NP_001275918.1:p.Ser1730Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5871,
          "referenceAllele": "G",
          "start": 5870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.3:c.5237G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Ser1746Asn",
        "hgvsWellDefined": "NP_057425.3:p.Ser1746Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5863,
          "referenceAllele": "G",
          "start": 5862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.2:c.5279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Ser1760Asn",
        "hgvsWellDefined": "XP_006717948.1:p.Ser1760Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5863,
          "referenceAllele": "G",
          "start": 5862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717886.2:c.5279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717949.1:p.Ser1760Asn",
        "hgvsWellDefined": "XP_006717949.1:p.Ser1760Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5860,
          "referenceAllele": "G",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.2:c.5276G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Ser1759Asn",
        "hgvsWellDefined": "XP_006717951.1:p.Ser1759Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5815,
          "referenceAllele": "G",
          "start": 5814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.2:c.5231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Ser1744Asn",
        "hgvsWellDefined": "XP_006717952.1:p.Ser1744Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4377,
          "referenceAllele": "G",
          "start": 4376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.1:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Ser1452Asn",
        "hgvsWellDefined": "XP_006717953.1:p.Ser1452Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5662,
          "referenceAllele": "G",
          "start": 5661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.1:c.5279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Ser1760Asn",
        "hgvsWellDefined": "XP_011538151.1:p.Ser1760Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4159,
          "referenceAllele": "G",
          "start": 4158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.1:c.4124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Ser1375Asn",
        "hgvsWellDefined": "XP_011538152.1:p.Ser1375Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5861,
          "referenceAllele": "G",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717885.4:c.5279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717948.1:p.Ser1760Asn",
        "hgvsWellDefined": "XP_006717948.1:p.Ser1760Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5858,
          "referenceAllele": "G",
          "start": 5857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717888.4:c.5276G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717951.1:p.Ser1759Asn",
        "hgvsWellDefined": "XP_006717951.1:p.Ser1759Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5813,
          "referenceAllele": "G",
          "start": 5812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717889.4:c.5231G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717952.1:p.Ser1744Asn",
        "hgvsWellDefined": "XP_006717952.1:p.Ser1744Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4377,
          "referenceAllele": "G",
          "start": 4376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_006717890.3:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717953.1:p.Ser1452Asn",
        "hgvsWellDefined": "XP_006717953.1:p.Ser1452Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7018,
          "referenceAllele": "G",
          "start": 7017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539849.3:c.5279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538151.1:p.Ser1760Asn",
        "hgvsWellDefined": "XP_011538151.1:p.Ser1760Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5506,
          "referenceAllele": "G",
          "start": 5505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_011539850.3:c.4124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538152.1:p.Ser1375Asn",
        "hgvsWellDefined": "XP_011538152.1:p.Ser1375Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5908,
          "referenceAllele": "G",
          "start": 5907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016310.2:c.5279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871799.1:p.Ser1760Asn",
        "hgvsWellDefined": "XP_016871799.1:p.Ser1760Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5861,
          "referenceAllele": "G",
          "start": 5860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016311.2:c.5279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871800.1:p.Ser1760Asn",
        "hgvsWellDefined": "XP_016871800.1:p.Ser1760Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4287,
          "referenceAllele": "G",
          "start": 4286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "XM_017016312.2:c.4265G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871801.1:p.Ser1422Asn",
        "hgvsWellDefined": "XP_016871801.1:p.Ser1422Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5881,
          "referenceAllele": "G",
          "start": 5880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_001288989.2:c.5189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275918.1:p.Ser1730Asn",
        "hgvsWellDefined": "NP_001275918.1:p.Ser1730Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5929,
          "referenceAllele": "G",
          "start": 5928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.5237G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:p.Ser1746Asn",
        "hgvsWellDefined": "NP_057425.3:p.Ser1746Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.5237G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.5237G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:p.Ser1746Asn"
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:p.Ser1746Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}