{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828742686",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1188,
          "referenceAllele": "A",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026270",
      "geneNCBI_id": 63895,
      "geneSymbol": "PIEZO2",
      "hgvs": [
        "NP_001365112.1:p.Ala1188Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA401922335",
          "hgvs": "NM_001378183.1:c.3562G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738021"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3395227[alleleid]",
        "alleleId": 3395227,
        "preferredName": "NM_001378183.1(PIEZO2):c.3562G>T (p.Ala1188Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3236108",
        "RCV": [
          "RCV004555369"
        ],
        "variationId": 3236108
      }
    ]
  },
  "type": "amino-acid"
}