{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828441830",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 69,
          "referenceAllele": "P",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NP_001358523.1:p.Pro69Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA315948",
          "hgvs": "NM_001371594.1:c.206C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710114"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201757[alleleid]",
        "alleleId": 201757,
        "preferredName": "NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206143",
        "RCV": [
          "RCV001086515",
          "RCV000725884",
          "RCV002317122"
        ],
        "variationId": 206143
      }
    ]
  },
  "type": "amino-acid"
}