{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827333204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 605,
          "referenceAllele": "Y",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NP_001317518.1:p.Tyr605Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254608",
          "hgvs": "NM_001330589.2:c.1814A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625268"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23995[alleleid]",
        "alleleId": 23995,
        "preferredName": "NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8956",
        "RCV": [
          "RCV000009514",
          "RCV000202449",
          "RCV000415611"
        ],
        "variationId": 8956
      }
    ]
  },
  "type": "amino-acid"
}