{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916028431",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "Y",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NP_001317518.1:p.Tyr120Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254616",
          "hgvs": "NM_001330589.2:c.359A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625268"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24007[alleleid]",
        "alleleId": 24007,
        "preferredName": "NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8968",
        "RCV": [
          "RCV000009530",
          "RCV000202546",
          "RCV000408956",
          "RCV000409888",
          "RCV000762942",
          "RCV001781212",
          "RCV003473068"
        ],
        "variationId": 8968
      }
    ]
  },
  "type": "amino-acid"
}