{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891863303",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 287,
          "referenceAllele": "S",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015673",
      "geneNCBI_id": 55023,
      "geneSymbol": "PHIP",
      "hgvs": [
        "NP_060404.4:p.Ser287Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA364638305",
          "hgvs": "NM_017934.7:c.860C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS644297"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415068[alleleid]",
        "alleleId": 415068,
        "preferredName": "NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426892",
        "RCV": [
          "RCV000490131",
          "RCV000770903"
        ],
        "variationId": 426892
      }
    ]
  },
  "type": "amino-acid"
}