{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916021003",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "A",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029419",
      "geneNCBI_id": 124454,
      "geneSymbol": "EARS2",
      "hgvs": [
        "NP_001295140.1:p.Ala272Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7962501",
          "hgvs": "NM_001308211.1:c.814G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166687"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=680117[alleleid]",
        "alleleId": 680117,
        "preferredName": "NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/692300",
        "RCV": [
          "RCV000855494",
          "RCV001310323"
        ],
        "variationId": 692300
      }
    ]
  },
  "type": "amino-acid"
}