{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099790",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 79,
          "referenceAllele": "L",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021606",
      "geneNCBI_id": 51660,
      "geneSymbol": "MPC1",
      "hgvs": [
        "NP_057182.1:p.Leu79His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129953",
          "hgvs": "NM_016098.4:c.236T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174971"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44235[alleleid]",
        "alleleId": 44235,
        "preferredName": "NM_016098.4(MPC1):c.236T>A (p.Leu79His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35562",
        "RCV": [
          "RCV000029224"
        ],
        "variationId": 35562
      }
    ]
  },
  "type": "amino-acid"
}