{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA137398",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1282,
          "referenceAllele": "N",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Asn1282Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA137396",
          "hgvs": "NM_022124.6:c.3845A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55096[alleleid]",
        "alleleId": 55096,
        "preferredName": "NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45931",
        "RCV": [
          "RCV000039165",
          "RCV001103712",
          "RCV000950191",
          "RCV001103711",
          "RCV001272567",
          "RCV001797050"
        ],
        "variationId": 45931
      }
    ]
  },
  "type": "amino-acid"
}