{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3083227087",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 755,
          "referenceAllele": "E",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028993",
      "geneNCBI_id": 9780,
      "geneSymbol": "PIEZO1",
      "hgvs": [
        "NP_001136336.2:p.Glu755Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397112873",
          "hgvs": "NM_001142864.4:c.2263G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153549"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4191461[alleleid]",
        "alleleId": 4191461,
        "preferredName": "NM_001142864.4(PIEZO1):c.2263G>A (p.Glu755Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4079589",
        "RCV": [
          "RCV005636093"
        ],
        "variationId": 4079589
      }
    ]
  },
  "type": "amino-acid"
}