{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828088506",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "M",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NP_001350449.1:p.Met387Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3077232",
          "hgvs": "NM_001363520.2:c.1160T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625889"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406402[alleleid]",
        "alleleId": 406402,
        "preferredName": "NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418295",
        "RCV": [
          "RCV000480079",
          "RCV000505013",
          "RCV000505174",
          "RCV000504782",
          "RCV000805545",
          "RCV001542748",
          "RCV002313243",
          "RCV001805096"
        ],
        "variationId": 418295
      }
    ]
  },
  "type": "amino-acid"
}