{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573241430",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6,
          "referenceAllele": "S",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012587",
      "geneNCBI_id": 7386,
      "geneSymbol": "UQCRFS1",
      "hgvs": [
        "NP_005994.2:p.Ser6Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9350903",
          "hgvs": "NM_006003.3:c.16T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171584"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1676123[alleleid]",
        "alleleId": 1676123,
        "preferredName": "NM_006003.3(UQCRFS1):c.16T>G (p.Ser6Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684192",
        "RCV": [
          "RCV002245191"
        ],
        "variationId": 1684192
      }
    ]
  },
  "type": "amino-acid"
}