{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573250489",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 491,
          "referenceAllele": "R",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "NP_006614.2:p.Arg491Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341854194",
          "hgvs": "NM_006623.4:c.1472G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172156"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1414066[alleleid]",
        "alleleId": 1414066,
        "preferredName": "NM_006623.4(PHGDH):c.1472G>A (p.Arg491Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1505198",
        "RCV": [
          "RCV002020422"
        ],
        "variationId": 1505198
      }
    ]
  },
  "type": "amino-acid"
}