{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916012353",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "referenceAllele": "V",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NP_055051.1:p.Val22Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1451705",
          "hgvs": "NM_014236.4:c.65T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173542"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=718785[alleleid]",
        "alleleId": 718785,
        "preferredName": "NM_014236.4(GNPAT):c.65T>C (p.Val22Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/716279",
        "RCV": [
          "RCV000888905",
          "RCV001285825"
        ],
        "variationId": 716279
      }
    ]
  },
  "type": "amino-acid"
}