{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580201350",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 3,
          "referenceAllele": "V",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002542",
      "geneNCBI_id": 1519,
      "geneSymbol": "CTSO",
      "hgvs": [
        "NP_001325.1:p.Val3Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358639108",
          "hgvs": "NM_001334.3:c.7G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167277"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2236212[alleleid]",
        "alleleId": 2236212,
        "preferredName": "NM_001334.3(CTSO):c.7G>A (p.Val3Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2254142",
        "RCV": [
          "RCV004107918"
        ],
        "variationId": 2254142
      }
    ]
  },
  "type": "amino-acid"
}