{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA182068",
  "communityStandardTitle": [
    "NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175242[alleleid]",
        "alleleId": 175242,
        "preferredName": "NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178301",
        "RCV": [
          "RCV000155045",
          "RCV001060903",
          "RCV001831962",
          "RCV002484934"
        ],
        "variationId": 178301
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73442210-G-A",
        "id": "10-73442210-G-A",
        "variant": "10:73442210 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73442210G>A?assembly=hg19",
        "id": "chr10:g.73442210G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71682453G>A?assembly=hg38",
        "id": "chr10:g.71682453G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143782870",
        "rs": 143782870
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73442210-G-A?dataset=gnomad_r2_1",
        "id": "10-73442210-G-A",
        "variant": "10:73442210 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71682453-G-A?dataset=gnomad_r3",
        "id": "10-71682453-G-A",
        "variant": "10:71682453 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71682453-G-A?dataset=gnomad_r4",
        "id": "10-71682453-G-A",
        "variant": "10:71682453 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 71682453,
          "referenceAllele": "G",
          "start": 71682452
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71682453G>A",
        "CM000672.2:g.71682453G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73442210,
          "referenceAllele": "G",
          "start": 73442209
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73442210G>A",
        "CM000672.1:g.73442210G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73112216,
          "referenceAllele": "G",
          "start": 73112215
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73112216G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290507,
          "referenceAllele": "G",
          "start": 290506
        }
      ],
      "hgvs": [
        "NG_008835.1:g.290507G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001230"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.12:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.9:p.Val623Ile",
        "hgvsWellDefined": "ENSP00000224721.9:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740637",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.1867G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.1867G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Val623Ile"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Val623Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.9:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Val623Ile",
        "hgvsWellDefined": "ENSP00000381789.5:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000442677.4:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388894.3:p.Val623Ile",
        "hgvsWellDefined": "ENSP00000388894.3:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000466757.8:c.1298G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "G",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000224721.10:c.1882G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000224721.8:p.Val628Ile",
        "hgvsWellDefined": "ENSP00000224721.8:p.Val628Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2254,
          "referenceAllele": "G",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000299366.11:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299366.8:p.Val623Ile",
        "hgvsWellDefined": "ENSP00000299366.8:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000398809.8:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381789.5:p.Val623Ile",
        "hgvsWellDefined": "ENSP00000381789.5:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000442677.3:c.642G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000466757.7:c.1298G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2229,
          "referenceAllele": "G",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000616684.4:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482036.2:p.Val623Ile",
        "hgvsWellDefined": "ENSP00000482036.2:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "ENST00000622827.4:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483211.1:p.Val623Ile",
        "hgvsWellDefined": "ENSP00000483211.1:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405902"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826091972",
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.1:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Val623Ile",
        "hgvsWellDefined": "NP_001165401.1:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826094479",
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171931.1:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165402.1:p.Val623Ile",
        "hgvsWellDefined": "NP_001165402.1:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182069",
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.5:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Val623Ile",
        "hgvsWellDefined": "NP_071407.4:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717940.2:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718003.1:p.Val688Ile",
        "hgvsWellDefined": "XP_006718003.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "G",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_006717942.2:c.1996G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718005.1:p.Val666Ile",
        "hgvsWellDefined": "XP_006718005.1:p.Val666Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540039.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538341.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538341.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "G",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540040.1:c.2056G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538342.1:p.Val686Ile",
        "hgvsWellDefined": "XP_011538342.1:p.Val686Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540041.1:c.2002G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538343.1:p.Val668Ile",
        "hgvsWellDefined": "XP_011538343.1:p.Val668Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540042.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538344.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538344.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540043.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538345.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538345.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1989,
          "referenceAllele": "G",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540044.1:c.1927G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538346.1:p.Val643Ile",
        "hgvsWellDefined": "XP_011538346.1:p.Val643Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540045.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538347.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538347.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540046.1:c.1522G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538348.1:p.Val508Ile",
        "hgvsWellDefined": "XP_011538348.1:p.Val508Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540047.1:c.880G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538349.1:p.Val294Ile",
        "hgvsWellDefined": "XP_011538349.1:p.Val294Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540048.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538350.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538350.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540049.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538351.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538351.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540050.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538352.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538352.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540051.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538353.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538353.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540053.1:c.2062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538355.1:p.Val688Ile",
        "hgvsWellDefined": "XP_011538355.1:p.Val688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XM_011540054.1:c.2002G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538356.1:p.Val668Ile",
        "hgvsWellDefined": "XP_011538356.1:p.Val668Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2305,
          "referenceAllele": "G",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "XR_945796.1:n.2305G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139429"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826091972",
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171930.2:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165401.1:p.Val623Ile",
        "hgvsWellDefined": "NP_001165401.1:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826094479",
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_001171931.2:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165402.1:p.Val623Ile",
        "hgvsWellDefined": "NP_001165402.1:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182069",
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NM_022124.6:c.1867G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071407.4:p.Val623Ile",
        "hgvsWellDefined": "NP_071407.4:p.Val623Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000224721.12:c.1867G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022124.6:c.1867G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000224721.9:p.Val623Ile"
          },
          "RefSeq": {
            "hgvs": "NP_071407.4:p.Val623Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}