{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA293432",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 6,
          "referenceAllele": "L",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010603",
      "geneNCBI_id": 6341,
      "geneSymbol": "SCO1",
      "hgvs": [
        "NP_004580.1:p.Leu6Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA293431",
          "hgvs": "NM_004589.4:c.16C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170286"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=142781[alleleid]",
        "alleleId": 142781,
        "preferredName": "NM_004589.4(SCO1):c.16C>G (p.Leu6Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139078",
        "RCV": [
          "RCV000128008",
          "RCV000224328",
          "RCV000273401",
          "RCV000330754"
        ],
        "variationId": 139078
      }
    ]
  },
  "type": "amino-acid"
}