{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA177594",
  "communityStandardTitle": [
    "NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6241999"
      },
      {
        "active": false,
        "id": "COSM6242000"
      },
      {
        "active": false,
        "id": "COSM6242001"
      },
      {
        "active": false,
        "id": "COSM6242002"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175131[alleleid]",
        "alleleId": 175131,
        "preferredName": "NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/164920",
        "RCV": [
          "RCV000151631",
          "RCV001044754",
          "RCV001273398"
        ],
        "variationId": 164920
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-55826543-C-T",
        "id": "10-55826543-C-T",
        "variant": "10:55826543 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.55826543C>T?assembly=hg19",
        "id": "chr10:g.55826543C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.54066783C>T?assembly=hg38",
        "id": "chr10:g.54066783C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148162562",
        "rs": 148162562
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-55826543-C-T?dataset=gnomad_r2_1",
        "id": "10-55826543-C-T",
        "variant": "10:55826543 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-54066783-C-T?dataset=gnomad_r3",
        "id": "10-54066783-C-T",
        "variant": "10:54066783 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-54066783-C-T?dataset=gnomad_r4",
        "id": "10-54066783-C-T",
        "variant": "10:54066783 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 54066783,
          "referenceAllele": "C",
          "start": 54066782
        }
      ],
      "hgvs": [
        "NC_000010.11:g.54066783C>T",
        "CM000672.2:g.54066783C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 55826543,
          "referenceAllele": "C",
          "start": 55826542
        }
      ],
      "hgvs": [
        "NC_000010.10:g.55826543C>T",
        "CM000672.1:g.55826543C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 55496549,
          "referenceAllele": "C",
          "start": 55496548
        }
      ],
      "hgvs": [
        "NC_000010.9:g.55496549C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 739509,
          "referenceAllele": "G",
          "start": 739508
        }
      ],
      "hgvs": [
        "NG_009191.2:g.739509G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1567400,
          "referenceAllele": "G",
          "start": 1567399
        }
      ],
      "hgvs": [
        "NG_009191.3:g.1567400G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616124"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.6:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Ala744Thr",
        "hgvsWellDefined": "ENSP00000482794.1:p.Ala744Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000320301.11:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322604.6:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000322604.6:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320301.11:c.2194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033056.4:c.2194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322604.6:p.Ala732Thr"
          },
          "RefSeq": {
            "hgvs": "NP_149045.3:p.Ala732Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395445.6:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378832.2:p.Ala739Thr",
        "hgvsWellDefined": "ENSP00000378832.2:p.Ala739Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.5:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Ala744Thr",
        "hgvsWellDefined": "ENSP00000482794.1:p.Ala744Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000642496.1:c.1053G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000644397.2:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495195.1:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000495195.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644397.2:c.2194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001384140.1:c.2194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495195.1:p.Ala732Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001371069.1:p.Ala732Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000320301.10:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322604.6:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000322604.6:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000361849.7:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354950.3:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000354950.3:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2486,
          "referenceAllele": "G",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373955.5:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363066.1:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000363066.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2509,
          "referenceAllele": "G",
          "start": 2508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373956.7:c.*149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363067.4:n.*149G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373957.7:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363068.4:p.Ala737Thr",
        "hgvsWellDefined": "ENSP00000363068.4:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373965.6:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363076.3:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000363076.3:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395430.5:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378818.1:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000378818.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2478,
          "referenceAllele": "G",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395432.6:c.2083G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378820.2:p.Ala695Thr",
        "hgvsWellDefined": "ENSP00000378820.2:p.Ala695Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2523,
          "referenceAllele": "G",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395433.5:c.2128G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378821.1:p.Ala710Thr",
        "hgvsWellDefined": "ENSP00000378821.1:p.Ala710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395438.5:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378826.2:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000378826.2:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1700,
          "endIntronDirection": "+",
          "endIntronOffset": 128900,
          "referenceAllele": "G",
          "start": 1700,
          "startIntronDirection": "+",
          "startIntronOffset": 128899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395440.5:c.1305+128900G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378827.1:n.1305+128900G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1493,
          "endIntronDirection": "+",
          "endIntronOffset": 147153,
          "referenceAllele": "G",
          "start": 1493,
          "startIntronDirection": "+",
          "startIntronOffset": 147152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395442.5:c.1098+147153G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378829.1:n.1098+147153G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2610,
          "referenceAllele": "G",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395445.5:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378832.2:p.Ala739Thr",
        "hgvsWellDefined": "ENSP00000378832.2:p.Ala739Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2486,
          "endIntronDirection": "+",
          "endIntronOffset": 12548,
          "referenceAllele": "G",
          "start": 2486,
          "startIntronDirection": "+",
          "startIntronOffset": 12547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395446.5:c.2091+12548G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378833.1:n.2091+12548G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000409834.5:c.1027G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386693.1:p.Ala343Thr",
        "hgvsWellDefined": "ENSP00000386693.1:p.Ala343Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "endIntronDirection": "-",
          "endIntronOffset": 226286,
          "referenceAllele": "G",
          "start": 1271,
          "startIntronDirection": "-",
          "startIntronOffset": 226287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000414367.5:c.877-226287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412531.1:n.877-226287G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000414778.5:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410304.2:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000410304.2:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2376,
          "referenceAllele": "G",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000437009.5:c.1981G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412628.2:p.Ala661Thr",
        "hgvsWellDefined": "ENSP00000412628.2:p.Ala661Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2509,
          "referenceAllele": "G",
          "start": 2508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000448885.5:c.*149G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412320.1:n.*149G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "endIntronDirection": "-",
          "endIntronOffset": 209519,
          "referenceAllele": "G",
          "start": 367,
          "startIntronDirection": "-",
          "startIntronOffset": 209520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000495484.5:c.-24-209520G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480780.1:n.-24-209520G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2625,
          "referenceAllele": "G",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000612394.4:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482921.1:p.Ala744Thr",
        "hgvsWellDefined": "ENSP00000482921.1:p.Ala744Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2625,
          "referenceAllele": "G",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.4:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Ala744Thr",
        "hgvsWellDefined": "ENSP00000482794.1:p.Ala744Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000614895.4:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478512.1:p.Ala737Thr",
        "hgvsWellDefined": "ENSP00000478512.1:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000616114.4:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483745.1:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000483745.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000617051.4:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484703.1:p.Ala737Thr",
        "hgvsWellDefined": "ENSP00000484703.1:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000617271.4:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478076.1:p.Ala732Thr",
        "hgvsWellDefined": "ENSP00000478076.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000621708.4:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484454.1:p.Ala737Thr",
        "hgvsWellDefined": "ENSP00000484454.1:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2376,
          "referenceAllele": "G",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000622048.4:c.1981G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482329.1:p.Ala661Thr",
        "hgvsWellDefined": "ENSP00000482329.1:p.Ala661Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825813462",
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142763.1:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136235.1:p.Ala737Thr",
        "hgvsWellDefined": "NP_001136235.1:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816800",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142764.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136236.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136236.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825820538",
      "coordinates": [
        {
          "allele": "A",
          "end": 2376,
          "referenceAllele": "G",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142765.1:c.1981G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136237.1:p.Ala661Thr",
        "hgvsWellDefined": "NP_001136237.1:p.Ala661Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825824035",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142766.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136238.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136238.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825827395",
      "coordinates": [
        {
          "allele": "A",
          "end": 2478,
          "referenceAllele": "G",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142767.1:c.2083G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136239.1:p.Ala695Thr",
        "hgvsWellDefined": "NP_001136239.1:p.Ala695Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825831007",
      "coordinates": [
        {
          "allele": "A",
          "end": 2523,
          "referenceAllele": "G",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142768.1:c.2128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136240.1:p.Ala710Thr",
        "hgvsWellDefined": "NP_001136240.1:p.Ala710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980177",
      "coordinates": [
        {
          "allele": "A",
          "end": 2625,
          "referenceAllele": "G",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.1:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Ala744Thr",
        "hgvsWellDefined": "NP_001136241.1:p.Ala744Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825836900",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136242.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839396",
      "coordinates": [
        {
          "allele": "A",
          "end": 2604,
          "referenceAllele": "G",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142771.1:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136243.1:p.Ala737Thr",
        "hgvsWellDefined": "NP_001136243.1:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825841709",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142772.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136244.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136244.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825847276",
      "coordinates": [
        {
          "allele": "A",
          "end": 2523,
          "referenceAllele": "G",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142773.1:c.2128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136245.1:p.Ala710Thr",
        "hgvsWellDefined": "NP_001136245.1:p.Ala710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA177595",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_033056.3:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149045.3:p.Ala732Thr",
        "hgvsWellDefined": "NP_149045.3:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980177",
      "coordinates": [
        {
          "allele": "A",
          "end": 2625,
          "referenceAllele": "G",
          "start": 2624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.2:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Ala744Thr",
        "hgvsWellDefined": "NP_001136241.1:p.Ala744Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825836900",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.2:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136242.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827850558",
      "coordinates": [
        {
          "allele": "A",
          "end": 2490,
          "referenceAllele": "G",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.1:c.2128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:p.Ala710Thr",
        "hgvsWellDefined": "NP_001341333.1:p.Ala710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827852505",
      "coordinates": [
        {
          "allele": "A",
          "end": 2610,
          "referenceAllele": "G",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354411.1:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341340.1:p.Ala739Thr",
        "hgvsWellDefined": "NP_001341340.1:p.Ala739Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827854011",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354420.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341349.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001341349.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827855187",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354429.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341358.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001341358.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827856790",
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "G",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354430.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341359.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001341359.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5986,
          "referenceAllele": "G",
          "start": 5985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XM_017016573.2:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872062.1:p.Ala737Thr",
        "hgvsWellDefined": "XP_016872062.1:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3207,
          "referenceAllele": "G",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XR_001747192.2:n.3207G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595382"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3207,
          "referenceAllele": "G",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XR_001747193.2:n.3207G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825813462",
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142763.2:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136235.1:p.Ala737Thr",
        "hgvsWellDefined": "NP_001136235.1:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816800",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142764.2:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136236.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136236.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825820538",
      "coordinates": [
        {
          "allele": "A",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142765.2:c.1981G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136237.1:p.Ala661Thr",
        "hgvsWellDefined": "NP_001136237.1:p.Ala661Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825824035",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142766.2:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136238.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136238.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825831007",
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "referenceAllele": "G",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142768.2:c.2128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136240.1:p.Ala710Thr",
        "hgvsWellDefined": "NP_001136240.1:p.Ala710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915980177",
      "coordinates": [
        {
          "allele": "A",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.3:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Ala744Thr",
        "hgvsWellDefined": "NP_001136241.1:p.Ala744Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825836900",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.3:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136242.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825839396",
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142771.2:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136243.1:p.Ala737Thr",
        "hgvsWellDefined": "NP_001136243.1:p.Ala737Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677621"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825841709",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142772.2:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136244.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001136244.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825847276",
      "coordinates": [
        {
          "allele": "A",
          "end": 2463,
          "referenceAllele": "G",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142773.2:c.2128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136245.1:p.Ala710Thr",
        "hgvsWellDefined": "NP_001136245.1:p.Ala710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827852505",
      "coordinates": [
        {
          "allele": "A",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354411.2:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341340.1:p.Ala739Thr",
        "hgvsWellDefined": "NP_001341340.1:p.Ala739Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827854011",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354420.2:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341349.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001341349.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827855187",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354429.2:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341358.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001341358.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827856790",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354430.2:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341359.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001341359.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA177595",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_033056.4:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149045.3:p.Ala732Thr",
        "hgvsWellDefined": "NP_149045.3:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320301.11:c.2194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033056.4:c.2194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322604.6:p.Ala732Thr"
          },
          "RefSeq": {
            "hgvs": "NP_149045.3:p.Ala732Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825827395",
      "coordinates": [
        {
          "allele": "A",
          "end": 2418,
          "referenceAllele": "G",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142767.2:c.2083G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136239.1:p.Ala695Thr",
        "hgvsWellDefined": "NP_001136239.1:p.Ala695Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827850558",
      "coordinates": [
        {
          "allele": "A",
          "end": 2490,
          "referenceAllele": "G",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.2:c.2128G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:p.Ala710Thr",
        "hgvsWellDefined": "NP_001341333.1:p.Ala710Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828935610",
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001384140.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371069.1:p.Ala732Thr",
        "hgvsWellDefined": "NP_001371069.1:p.Ala732Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644397.2:c.2194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001384140.1:c.2194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495195.1:p.Ala732Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001371069.1:p.Ala732Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}