{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573213644",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 341,
          "referenceAllele": "I",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NP_001358521.1:p.Ile341Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358172053",
          "hgvs": "NM_001371592.1:c.1022T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710142"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1425179[alleleid]",
        "alleleId": 1425179,
        "preferredName": "NM_001371596.2(MFSD8):c.1016T>G (p.Ile339Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1395780",
        "RCV": [
          "RCV001901257"
        ],
        "variationId": 1395780
      }
    ]
  },
  "type": "amino-acid"
}