{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA137366",
  "communityStandardTitle": [
    "NM_001164375.3(C10orf105):c.*3161C>T",
    "NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4670912",
        "active": true,
        "id": "COSM4670912"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4670913",
        "active": true,
        "id": "COSM4670913"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55079[alleleid]",
        "alleleId": 55079,
        "preferredName": "NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45914",
        "RCV": [
          "RCV000039147",
          "RCV000280070",
          "RCV000406184",
          "RCV000487639",
          "RCV004528192",
          "RCV003242971"
        ],
        "variationId": 45914
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73472532-G-A",
        "id": "10-73472532-G-A",
        "variant": "10:73472532 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73472532G>A?assembly=hg19",
        "id": "chr10:g.73472532G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71712775G>A?assembly=hg38",
        "id": "chr10:g.71712775G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517321",
        "rs": 397517321
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73472532-G-A?dataset=gnomad_r2_1",
        "id": "10-73472532-G-A",
        "variant": "10:73472532 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71712775-G-A?dataset=gnomad_r3",
        "id": "10-71712775-G-A",
        "variant": "10:71712775 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71712775-G-A?dataset=gnomad_r4",
        "id": "10-71712775-G-A",
        "variant": "10:71712775 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 71712775,
          "referenceAllele": "G",
          "start": 71712774
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71712775G>A",
        "CM000672.2:g.71712775G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73472532,
          "referenceAllele": "G",
          "start": 73472531
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73472532G>A",
        "CM000672.1:g.73472532G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73142538,
          "referenceAllele": "G",
          "start": 73142537
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73142538G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320829,
          "referenceAllele": "G",
          "start": 320828
        }
      ],
      "hgvs": [
        "NG_008835.1:g.320829G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3735,
          "referenceAllele": "G",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Val1111Ile",
        "hgvsWellDefined": "ENSP00000224721.9:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.3331G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.3331G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Val1111Ile"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Val1111Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.9:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Val1111Ile",
        "hgvsWellDefined": "ENSP00000381789.5:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3720,
          "referenceAllele": "C",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "ENST00000441508.4:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403151.2:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441508.4:c.*3161C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164375.3:c.*3161C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403151.2:n.*3161C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001157847.1:n.*3161C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3331,
          "referenceAllele": "G",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000442677.4:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388894.3:p.Val1111Ile",
        "hgvsWellDefined": "ENSP00000388894.3:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2762,
          "referenceAllele": "G",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000466757.8:c.2762G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3736,
          "referenceAllele": "G",
          "start": 3735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.3346G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Val1116Ile",
        "hgvsWellDefined": "ENSP00000224721.8:p.Val1116Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3665,
          "referenceAllele": "C",
          "start": 3664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "ENST00000398786.2:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381766.3:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172,
          "referenceAllele": "G",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398792.3:n.172G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS278420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.8:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Val1111Ile",
        "hgvsWellDefined": "ENSP00000381789.5:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3763,
          "referenceAllele": "C",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "ENST00000441508.2:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403151.2:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2106,
          "referenceAllele": "G",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000442677.3:c.2106G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2762,
          "referenceAllele": "G",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000466757.7:c.2762G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3693,
          "referenceAllele": "G",
          "start": 3692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000616684.4:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482036.2:p.Val1111Ile",
        "hgvsWellDefined": "ENSP00000482036.2:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Val1111Ile",
        "hgvsWellDefined": "ENSP00000483211.1:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3763,
          "referenceAllele": "C",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001164375.2:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157847.1:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3665,
          "referenceAllele": "C",
          "start": 3664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001168390.1:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161862.1:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826092796",
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.1:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Val1111Ile",
        "hgvsWellDefined": "NP_001165401.1:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137367",
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Val1111Ile",
        "hgvsWellDefined": "NP_071407.4:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_006718003.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3703,
          "referenceAllele": "G",
          "start": 3702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.3460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Val1154Ile",
        "hgvsWellDefined": "XP_006718005.1:p.Val1154Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538341.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3763,
          "referenceAllele": "G",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.3520G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Val1174Ile",
        "hgvsWellDefined": "XP_011538342.1:p.Val1174Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.3466G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Val1156Ile",
        "hgvsWellDefined": "XP_011538343.1:p.Val1156Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538344.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538345.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3453,
          "referenceAllele": "G",
          "start": 3452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.3391G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Val1131Ile",
        "hgvsWellDefined": "XP_011538346.1:p.Val1131Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538347.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3191,
          "referenceAllele": "G",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.2986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Val996Ile",
        "hgvsWellDefined": "XP_011538348.1:p.Val996Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "referenceAllele": "G",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.2344G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Val782Ile",
        "hgvsWellDefined": "XP_011538349.1:p.Val782Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538350.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538351.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538352.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538353.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Val1176Ile",
        "hgvsWellDefined": "XP_011538355.1:p.Val1176Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3769,
          "referenceAllele": "G",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.3769G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4808,
          "referenceAllele": "C",
          "start": 4807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "XM_011539808.2:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538110.1:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3631,
          "referenceAllele": "C",
          "start": 3630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "XM_011539809.2:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538111.1:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3720,
          "referenceAllele": "C",
          "start": 3719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001164375.3:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157847.1:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663844",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441508.4:c.*3161C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164375.3:c.*3161C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403151.2:n.*3161C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001157847.1:n.*3161C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3691,
          "referenceAllele": "C",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020304",
      "geneNCBI_id": 414152,
      "geneSymbol": "C10orf105",
      "hgvs": [
        "NM_001168390.2:c.*3161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161862.1:n.*3161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826092796",
      "coordinates": [
        {
          "allele": "A",
          "end": 3735,
          "referenceAllele": "G",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.2:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Val1111Ile",
        "hgvsWellDefined": "NP_001165401.1:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA137367",
      "coordinates": [
        {
          "allele": "A",
          "end": 3735,
          "referenceAllele": "G",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Val1111Ile",
        "hgvsWellDefined": "NP_071407.4:p.Val1111Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.3331G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.3331G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Val1111Ile"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Val1111Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}