{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825848042",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1572,
          "referenceAllele": "I",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001136245.1:p.Ile1572Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138445",
          "hgvs": "NM_001142773.2:c.4714A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376526585",
          "hgvs": "NM_001142773.2:c.4714A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153532"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55651[alleleid]",
        "alleleId": 55651,
        "preferredName": "NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46486",
        "RCV": [
          "RCV000039745",
          "RCV000345143",
          "RCV000928675",
          "RCV001831686"
        ],
        "variationId": 46486
      }
    ]
  },
  "type": "amino-acid"
}