{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828443588",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 381,
          "referenceAllele": "V",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NP_001358524.1:p.Val381Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3077225",
          "hgvs": "NM_001371595.1:c.1141G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA358170721",
          "hgvs": "NM_001371595.1:c.1141G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710019"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=923425[alleleid]",
        "alleleId": 923425,
        "preferredName": "NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/947585",
        "RCV": [
          "RCV001218693",
          "RCV001560430"
        ],
        "variationId": 947585
      }
    ]
  },
  "type": "amino-acid"
}