{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916028425",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 50,
          "referenceAllele": "P",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002330",
      "geneNCBI_id": 1376,
      "geneSymbol": "CPT2",
      "hgvs": [
        "NP_001317518.1:p.Pro50His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254606",
          "hgvs": "NM_001330589.2:c.149C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625268"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23993[alleleid]",
        "alleleId": 23993,
        "preferredName": "NM_000098.3(CPT2):c.149C>A (p.Pro50His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8954",
        "RCV": [
          "RCV000009511",
          "RCV000009512",
          "RCV000202440",
          "RCV000440440",
          "RCV000762941",
          "RCV000735345",
          "RCV003473063"
        ],
        "variationId": 8954
      }
    ]
  },
  "type": "amino-acid"
}