{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA321990",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 223,
          "referenceAllele": "V",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023041",
      "geneNCBI_id": 57107,
      "geneSymbol": "PDSS2",
      "hgvs": [
        "NP_065114.3:p.Val223Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321989",
          "hgvs": "NM_020381.4:c.667G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176886"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211198[alleleid]",
        "alleleId": 211198,
        "preferredName": "NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214987",
        "RCV": [
          "RCV000677022",
          "RCV000765862",
          "RCV002294075",
          "RCV003323448",
          "RCV003937738"
        ],
        "variationId": 214987
      }
    ]
  },
  "type": "amino-acid"
}