{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826323748",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 510,
          "referenceAllele": "N",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NP_001230175.1:p.Asn510Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA801807",
          "hgvs": "NM_001243246.2:c.1529A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273279[alleleid]",
        "alleleId": 273279,
        "preferredName": "NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289042",
        "RCV": [
          "RCV000381836",
          "RCV000756458",
          "RCV002059256",
          "RCV003910018"
        ],
        "variationId": 289042
      }
    ]
  },
  "type": "amino-acid"
}