{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376516125",
  "communityStandardTitle": [
    "NM_001384140.1(PCDH15):c.3316C>G (p.Arg1106Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.55698632G>C?assembly=hg19",
        "id": "chr10:g.55698632G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.53938872G>C?assembly=hg38",
        "id": "chr10:g.53938872G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202033121",
        "rs": 202033121
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-53938872-G-C?dataset=gnomad_r4",
        "id": "10-53938872-G-C",
        "variant": "10:53938872 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 53938872,
          "referenceAllele": "G",
          "start": 53938871
        }
      ],
      "hgvs": [
        "NC_000010.11:g.53938872G>C",
        "CM000672.2:g.53938872G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 55698632,
          "referenceAllele": "G",
          "start": 55698631
        }
      ],
      "hgvs": [
        "NC_000010.10:g.55698632G>C",
        "CM000672.1:g.55698632G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 55368638,
          "referenceAllele": "G",
          "start": 55368637
        }
      ],
      "hgvs": [
        "NC_000010.9:g.55368638G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867420,
          "referenceAllele": "C",
          "start": 867419
        }
      ],
      "hgvs": [
        "NG_009191.2:g.867420C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1695311,
          "referenceAllele": "C",
          "start": 1695310
        }
      ],
      "hgvs": [
        "NG_009191.3:g.1695311C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616124"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3687,
          "referenceAllele": "C",
          "start": 3686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.6:c.3352C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Arg1118Gly",
        "hgvsWellDefined": "ENSP00000482794.1:p.Arg1118Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000320301.11:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322604.6:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000322604.6:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320301.11:c.3316C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033056.4:c.3316C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322604.6:p.Arg1106Gly"
          },
          "RefSeq": {
            "hgvs": "NP_149045.3:p.Arg1106Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3672,
          "referenceAllele": "C",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395445.6:c.3337C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378832.2:p.Arg1113Gly",
        "hgvsWellDefined": "ENSP00000378832.2:p.Arg1113Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3687,
          "referenceAllele": "C",
          "start": 3686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.5:c.3352C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Arg1118Gly",
        "hgvsWellDefined": "ENSP00000482794.1:p.Arg1118Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000642496.1:c.2175C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000644397.2:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495195.1:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000495195.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644397.2:c.3316C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001384140.1:c.3316C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495195.1:p.Arg1106Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001371069.1:p.Arg1106Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000320301.10:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322604.6:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000322604.6:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000361849.7:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354950.3:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000354950.3:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3631,
          "referenceAllele": "C",
          "start": 3630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373956.7:c.*1271C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363067.4:n.*1271C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3726,
          "referenceAllele": "C",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373957.7:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363068.4:p.Arg1111Gly",
        "hgvsWellDefined": "ENSP00000363068.4:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269985"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000373965.6:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363076.3:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000363076.3:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395430.5:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378818.1:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000378818.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3600,
          "referenceAllele": "C",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395432.6:c.3205C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378820.2:p.Arg1069Gly",
        "hgvsWellDefined": "ENSP00000378820.2:p.Arg1069Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3645,
          "referenceAllele": "C",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395433.5:c.3250C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378821.1:p.Arg1084Gly",
        "hgvsWellDefined": "ENSP00000378821.1:p.Arg1084Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395438.5:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378826.2:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000378826.2:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1700,
          "endIntronDirection": "-",
          "endIntronOffset": 129325,
          "referenceAllele": "C",
          "start": 1700,
          "startIntronDirection": "-",
          "startIntronOffset": 129326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395440.5:c.1306-129326C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378827.1:n.1306-129326C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1493,
          "endIntronDirection": "-",
          "endIntronOffset": 129325,
          "referenceAllele": "C",
          "start": 1493,
          "startIntronDirection": "-",
          "startIntronOffset": 129326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395442.5:c.1099-129326C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378829.1:n.1099-129326C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3732,
          "referenceAllele": "C",
          "start": 3731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395445.5:c.3337C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378832.2:p.Arg1113Gly",
        "hgvsWellDefined": "ENSP00000378832.2:p.Arg1113Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2486,
          "endIntronDirection": "-",
          "endIntronOffset": 129325,
          "referenceAllele": "C",
          "start": 2486,
          "startIntronDirection": "-",
          "startIntronOffset": 129326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000395446.5:c.2092-129326C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378833.1:n.2092-129326C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2725,
          "referenceAllele": "C",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000409834.5:c.2149C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386693.1:p.Arg717Gly",
        "hgvsWellDefined": "ENSP00000386693.1:p.Arg717Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1271,
          "endIntronDirection": "-",
          "endIntronOffset": 98375,
          "referenceAllele": "C",
          "start": 1271,
          "startIntronDirection": "-",
          "startIntronOffset": 98376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000414367.5:c.877-98376C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412531.1:n.877-98376C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000414778.5:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410304.2:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000410304.2:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3498,
          "referenceAllele": "C",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000437009.5:c.3103C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412628.2:p.Arg1035Gly",
        "hgvsWellDefined": "ENSP00000412628.2:p.Arg1035Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3631,
          "referenceAllele": "C",
          "start": 3630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000448885.5:c.*1271C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412320.1:n.*1271C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 367,
          "endIntronDirection": "-",
          "endIntronOffset": 81608,
          "referenceAllele": "C",
          "start": 367,
          "startIntronDirection": "-",
          "startIntronOffset": 81609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000495484.5:c.-24-81609C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480780.1:n.-24-81609C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3747,
          "referenceAllele": "C",
          "start": 3746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000612394.4:c.3352C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482921.1:p.Arg1118Gly",
        "hgvsWellDefined": "ENSP00000482921.1:p.Arg1118Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3747,
          "referenceAllele": "C",
          "start": 3746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000613657.4:c.3352C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482794.1:p.Arg1118Gly",
        "hgvsWellDefined": "ENSP00000482794.1:p.Arg1118Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3726,
          "referenceAllele": "C",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000614895.4:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478512.1:p.Arg1111Gly",
        "hgvsWellDefined": "ENSP00000478512.1:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000616114.4:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483745.1:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000483745.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3726,
          "referenceAllele": "C",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000617051.4:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484703.1:p.Arg1111Gly",
        "hgvsWellDefined": "ENSP00000484703.1:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000617271.4:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478076.1:p.Arg1106Gly",
        "hgvsWellDefined": "ENSP00000478076.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3726,
          "referenceAllele": "C",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000621708.4:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484454.1:p.Arg1111Gly",
        "hgvsWellDefined": "ENSP00000484454.1:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3498,
          "referenceAllele": "C",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "ENST00000622048.4:c.3103C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482329.1:p.Arg1035Gly",
        "hgvsWellDefined": "ENSP00000482329.1:p.Arg1035Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3726,
          "referenceAllele": "C",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142763.1:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136235.1:p.Arg1111Gly",
        "hgvsWellDefined": "NP_001136235.1:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142764.1:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136236.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136236.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3498,
          "referenceAllele": "C",
          "start": 3497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142765.1:c.3103C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136237.1:p.Arg1035Gly",
        "hgvsWellDefined": "NP_001136237.1:p.Arg1035Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142766.1:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136238.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136238.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3600,
          "referenceAllele": "C",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142767.1:c.3205C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136239.1:p.Arg1069Gly",
        "hgvsWellDefined": "NP_001136239.1:p.Arg1069Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3645,
          "referenceAllele": "C",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142768.1:c.3250C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136240.1:p.Arg1084Gly",
        "hgvsWellDefined": "NP_001136240.1:p.Arg1084Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3747,
          "referenceAllele": "C",
          "start": 3746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.1:c.3352C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Arg1118Gly",
        "hgvsWellDefined": "NP_001136241.1:p.Arg1118Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.1:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136242.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3726,
          "referenceAllele": "C",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142771.1:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136243.1:p.Arg1111Gly",
        "hgvsWellDefined": "NP_001136243.1:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142772.1:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136244.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136244.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3645,
          "referenceAllele": "C",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142773.1:c.3250C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136245.1:p.Arg1084Gly",
        "hgvsWellDefined": "NP_001136245.1:p.Arg1084Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076743724",
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_033056.3:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_149045.3:p.Arg1106Gly",
        "hgvsWellDefined": "NP_149045.3:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3747,
          "referenceAllele": "C",
          "start": 3746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.2:c.3352C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Arg1118Gly",
        "hgvsWellDefined": "NP_001136241.1:p.Arg1118Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.2:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136242.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3612,
          "referenceAllele": "C",
          "start": 3611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.1:c.3250C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:p.Arg1084Gly",
        "hgvsWellDefined": "NP_001341333.1:p.Arg1084Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3732,
          "referenceAllele": "C",
          "start": 3731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354411.1:c.3337C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341340.1:p.Arg1113Gly",
        "hgvsWellDefined": "NP_001341340.1:p.Arg1113Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354420.1:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341349.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001341349.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "C",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354429.1:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341358.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001341358.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7108,
          "referenceAllele": "C",
          "start": 7107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XM_017016573.2:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872062.1:p.Arg1111Gly",
        "hgvsWellDefined": "XP_016872062.1:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4329,
          "referenceAllele": "C",
          "start": 4328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XR_001747192.2:n.4329C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4329,
          "referenceAllele": "C",
          "start": 4328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "XR_001747193.2:n.4329C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3666,
          "referenceAllele": "C",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142763.2:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136235.1:p.Arg1111Gly",
        "hgvsWellDefined": "NP_001136235.1:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142764.2:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136236.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136236.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3438,
          "referenceAllele": "C",
          "start": 3437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142765.2:c.3103C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136237.1:p.Arg1035Gly",
        "hgvsWellDefined": "NP_001136237.1:p.Arg1035Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142766.2:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136238.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136238.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3585,
          "referenceAllele": "C",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142768.2:c.3250C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136240.1:p.Arg1084Gly",
        "hgvsWellDefined": "NP_001136240.1:p.Arg1084Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3687,
          "referenceAllele": "C",
          "start": 3686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142769.3:c.3352C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136241.1:p.Arg1118Gly",
        "hgvsWellDefined": "NP_001136241.1:p.Arg1118Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142770.3:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136242.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136242.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3666,
          "referenceAllele": "C",
          "start": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142771.2:c.3331C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136243.1:p.Arg1111Gly",
        "hgvsWellDefined": "NP_001136243.1:p.Arg1111Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142772.2:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136244.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001136244.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3585,
          "referenceAllele": "C",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142773.2:c.3250C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136245.1:p.Arg1084Gly",
        "hgvsWellDefined": "NP_001136245.1:p.Arg1084Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3672,
          "referenceAllele": "C",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354411.2:c.3337C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341340.1:p.Arg1113Gly",
        "hgvsWellDefined": "NP_001341340.1:p.Arg1113Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354420.2:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341349.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001341349.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354429.2:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341358.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001341358.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076743724",
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_033056.4:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_149045.3:p.Arg1106Gly",
        "hgvsWellDefined": "NP_149045.3:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320301.11:c.3316C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033056.4:c.3316C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322604.6:p.Arg1106Gly"
          },
          "RefSeq": {
            "hgvs": "NP_149045.3:p.Arg1106Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3540,
          "referenceAllele": "C",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001142767.2:c.3205C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136239.1:p.Arg1069Gly",
        "hgvsWellDefined": "NP_001136239.1:p.Arg1069Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3612,
          "referenceAllele": "C",
          "start": 3611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001354404.2:c.3250C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341333.1:p.Arg1084Gly",
        "hgvsWellDefined": "NP_001341333.1:p.Arg1084Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "C",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NM_001384140.1:c.3316C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371069.1:p.Arg1106Gly",
        "hgvsWellDefined": "NP_001371069.1:p.Arg1106Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644397.2:c.3316C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001384140.1:c.3316C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495195.1:p.Arg1106Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001371069.1:p.Arg1106Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}