{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139691088",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008940",
      "geneNCBI_id": 5264,
      "geneSymbol": "PHYH",
      "hgvs": [
        "NP_001310011.1:p.Ala279Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA376051681",
          "hgvs": "NM_001323082.2:c.836C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648299"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=859789[alleleid]",
        "alleleId": 859789,
        "preferredName": "NM_006214.4(PHYH):c.830C>A (p.Ala277Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/872163",
        "RCV": [
          "RCV001092475"
        ],
        "variationId": 872163
      }
    ]
  },
  "type": "amino-acid"
}