{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658662827",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 44,
          "referenceAllele": "P",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "NP_077282.3:p.Pro44Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA283770000",
          "hgvs": "NM_024306.5:c.131C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178243"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=466693[alleleid]",
        "alleleId": 466693,
        "preferredName": "NM_024306.5(FA2H):c.131C>A (p.Pro44Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/458305",
        "RCV": [
          "RCV000555976",
          "RCV002265790"
        ],
        "variationId": 458305
      }
    ]
  },
  "type": "amino-acid"
}