{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645425135",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 402,
          "referenceAllele": "H",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004883",
      "geneNCBI_id": 3075,
      "geneSymbol": "CFH",
      "hgvs": [
        "NP_000177.2:p.His402Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1305284",
          "hgvs": "NM_000186.4:c.1204C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146736"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=278205[alleleid]",
        "alleleId": 278205,
        "preferredName": "NM_000186.4(CFH):c.1204C>T (p.His402Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/294490",
        "RCV": [
          "RCV000296616",
          "RCV000327040",
          "RCV000349294",
          "RCV000388493",
          "RCV001579193",
          "RCV001521610",
          "RCV002294225"
        ],
        "variationId": 294490
      }
    ]
  },
  "type": "amino-acid"
}