{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580373506",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 18,
          "referenceAllele": "V",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014118",
      "geneNCBI_id": 23430,
      "geneSymbol": "TPSD1",
      "hgvs": [
        "NP_036349.1:p.Val18Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7804168",
          "hgvs": "NM_012217.3:c.52G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172942"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2230133[alleleid]",
        "alleleId": 2230133,
        "preferredName": "NM_012217.3(TPSD1):c.52G>A (p.Val18Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2243299",
        "RCV": [
          "RCV004099779"
        ],
        "variationId": 2243299
      }
    ]
  },
  "type": "amino-acid"
}