{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913196890",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 2718,
          "referenceAllele": "R",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NP_071351.2:p.Arg2718Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401911836",
          "hgvs": "NM_022068.4:c.8153G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177698"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=619911[alleleid]",
        "alleleId": 619911,
        "preferredName": "NM_001378183.1(PIEZO2):c.8492G>A (p.Arg2831Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/631524",
        "RCV": [
          "RCV000778125",
          "RCV003148862"
        ],
        "variationId": 631524
      }
    ]
  },
  "type": "amino-acid"
}