{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825847078",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 506,
          "referenceAllele": "V",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001136245.1:p.Val506Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253349",
          "hgvs": "NM_001142773.2:c.1517T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153532"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33468[alleleid]",
        "alleleId": 33468,
        "preferredName": "NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18429",
        "RCV": [
          "RCV001851963",
          "RCV002513133",
          "RCV000005225"
        ],
        "variationId": 18429
      }
    ]
  },
  "type": "amino-acid"
}