{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825842249",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1273,
          "referenceAllele": "R",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014674",
      "geneNCBI_id": 65217,
      "geneSymbol": "PCDH15",
      "hgvs": [
        "NP_001136244.1:p.Arg1273Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138426",
          "hgvs": "NM_001142772.2:c.3817C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153531"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55640[alleleid]",
        "alleleId": 55640,
        "preferredName": "NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46475",
        "RCV": [
          "RCV000039734",
          "RCV000763655",
          "RCV001104870",
          "RCV001810408",
          "RCV000727028",
          "RCV001449585"
        ],
        "variationId": 46475
      }
    ]
  },
  "type": "amino-acid"
}