{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1910947596",
  "communityStandardTitle": [
    "NM_001384140.1(PCDH15):c.1806T= (p.Tyr602=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517443",
        "rs": 1057517443
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 54132986,
          "referenceAllele": "A",
          "start": 54132985
        }
      ],
      "hgvs": [
        "NC_000010.11:g.54132986A=",
        "CM000672.2:g.54132986A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 55892746,
          "referenceAllele": "A",
          "start": 55892745
        }
      ],
      "hgvs": [
        "NC_000010.10:g.55892746A=",
        "CM000672.1:g.55892746A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 55562752,
          "referenceAllele": "A",
          "start": 55562751
        }
      ],
      "hgvs": [
        "NC_000010.9:g.55562752A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673306,
          "referenceAllele": "T",
          "start": 673305
        }
      ],
      "hgvs": [
        "NG_009191.2:g.673306T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1501197,
          "referenceAllele": "T",
          "start": 1501196
        }
      ],
      "hgvs": [
        "NG_009191.3:g.1501197T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616124"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2177,
          "referenceAllele": "T",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.6:c.1842T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Tyr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000320301.11:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322604.6:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320301.11:c.1806T="
          },
          "RefSeq": {
            "hgvs": "NM_033056.4:c.1806T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322604.6:p.Tyr602="
          },
          "RefSeq": {
            "hgvs": "NP_149045.3:p.Tyr602="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "referenceAllele": "T",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395445.6:c.1827T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378832.2:p.Tyr609="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2177,
          "referenceAllele": "T",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.5:c.1842T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Tyr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 665,
          "referenceAllele": "T",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000642496.1:c.665T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000644397.2:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495195.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644397.2:c.1806T="
          },
          "RefSeq": {
            "hgvs": "NM_001384140.1:c.1806T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495195.1:p.Tyr602="
          },
          "RefSeq": {
            "hgvs": "NP_001371069.1:p.Tyr602="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000320301.10:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322604.6:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000361849.7:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354950.3:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "T",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373955.5:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363066.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373956.7:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363067.4:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "T",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373957.7:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363068.4:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373965.6:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363076.3:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395430.5:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378818.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "T",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395432.6:c.1695T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378820.2:p.Tyr565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2135,
          "referenceAllele": "T",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395433.5:c.1740T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378821.1:p.Tyr580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395438.5:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378826.2:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "endIntronDirection": "+",
          "endIntronOffset": 62697,
          "referenceAllele": "T",
          "start": 1700,
          "startIntronDirection": "+",
          "startIntronOffset": 62696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395440.5:c.1305+62697T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378827.1:n.1305+62697T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "endIntronDirection": "+",
          "endIntronOffset": 80950,
          "referenceAllele": "T",
          "start": 1493,
          "startIntronDirection": "+",
          "startIntronOffset": 80949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395442.5:c.1098+80950T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378829.1:n.1098+80950T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2222,
          "referenceAllele": "T",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395445.5:c.1827T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378832.2:p.Tyr609="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395446.5:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378833.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1215,
          "referenceAllele": "T",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000409834.5:c.639T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386693.1:p.Tyr213="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "endIntronDirection": "+",
          "endIntronOffset": 184285,
          "referenceAllele": "T",
          "start": 1271,
          "startIntronDirection": "+",
          "startIntronOffset": 184284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000414367.5:c.876+184285T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412531.1:n.876+184285T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000414778.5:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410304.2:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2179,
          "endIntronDirection": "+",
          "endIntronOffset": 20114,
          "referenceAllele": "T",
          "start": 2179,
          "startIntronDirection": "+",
          "startIntronOffset": 20113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000437009.5:c.1784+20114T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412628.2:n.1784+20114T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000448885.5:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412320.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "endIntronDirection": "-",
          "endIntronOffset": 275722,
          "referenceAllele": "T",
          "start": 367,
          "startIntronDirection": "-",
          "startIntronOffset": 275723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000495484.5:c.-24-275723T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480780.1:n.-24-275723T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "T",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000612394.4:c.1842T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482921.1:p.Tyr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "T",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.4:c.1842T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Tyr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "T",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000614895.4:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478512.1:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000616114.4:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483745.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "T",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000617051.4:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484703.1:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000617271.4:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478076.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "T",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000621708.4:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484454.1:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2179,
          "endIntronDirection": "+",
          "endIntronOffset": 20114,
          "referenceAllele": "T",
          "start": 2179,
          "startIntronDirection": "+",
          "startIntronOffset": 20113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000622048.4:c.1784+20114T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482329.1:n.1784+20114T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "T",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142763.1:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136235.1:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142764.1:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136236.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2179,
          "endIntronDirection": "+",
          "endIntronOffset": 20114,
          "referenceAllele": "T",
          "start": 2179,
          "startIntronDirection": "+",
          "startIntronOffset": 20113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142765.1:c.1784+20114T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136237.1:n.1784+20114T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142766.1:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136238.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "T",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142767.1:c.1695T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136239.1:p.Tyr565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2135,
          "referenceAllele": "T",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142768.1:c.1740T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136240.1:p.Tyr580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "T",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.1:c.1842T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Tyr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.1:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "T",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142771.1:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136243.1:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142772.1:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136244.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2135,
          "referenceAllele": "T",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142773.1:c.1740T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136245.1:p.Tyr580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076774688",
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_033056.3:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_149045.3:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "T",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.2:c.1842T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Tyr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.2:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "T",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.1:c.1740T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:p.Tyr580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2222,
          "referenceAllele": "T",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354411.1:c.1827T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341340.1:p.Tyr609="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354420.1:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341349.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354429.1:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341358.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354430.1:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341359.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5598,
          "referenceAllele": "T",
          "start": 5597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XM_017016573.2:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016872062.1:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2819,
          "referenceAllele": "T",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XR_001747192.2:n.2819T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2819,
          "referenceAllele": "T",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XR_001747193.2:n.2819T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142763.2:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136235.1:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142764.2:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136236.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2119,
          "endIntronDirection": "+",
          "endIntronOffset": 20114,
          "referenceAllele": "T",
          "start": 2119,
          "startIntronDirection": "+",
          "startIntronOffset": 20113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142765.2:c.1784+20114T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136237.1:n.1784+20114T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142766.2:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136238.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2075,
          "referenceAllele": "T",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142768.2:c.1740T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136240.1:p.Tyr580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2177,
          "referenceAllele": "T",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.3:c.1842T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Tyr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.3:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142771.2:c.1821T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136243.1:p.Tyr607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142772.2:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136244.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2075,
          "referenceAllele": "T",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142773.2:c.1740T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136245.1:p.Tyr580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "referenceAllele": "T",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354411.2:c.1827T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341340.1:p.Tyr609="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354420.2:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341349.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354429.2:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341358.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354430.2:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341359.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076774688",
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_033056.4:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_149045.3:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320301.11:c.1806T="
          },
          "RefSeq": {
            "hgvs": "NM_033056.4:c.1806T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322604.6:p.Tyr602="
          },
          "RefSeq": {
            "hgvs": "NP_149045.3:p.Tyr602="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "T",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142767.2:c.1695T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136239.1:p.Tyr565="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "T",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.2:c.1740T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:p.Tyr580="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001384140.1:c.1806T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001371069.1:p.Tyr602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644397.2:c.1806T="
          },
          "RefSeq": {
            "hgvs": "NM_001384140.1:c.1806T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495195.1:p.Tyr602="
          },
          "RefSeq": {
            "hgvs": "NP_001371069.1:p.Tyr602="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}