{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA175009",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 368,
          "referenceAllele": "D",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NP_689991.1:p.Asp368His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA175008",
          "hgvs": "NM_152778.4:c.1102G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172083[alleleid]",
        "alleleId": 172083,
        "preferredName": "NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162380",
        "RCV": [
          "RCV000149774",
          "RCV000149775"
        ],
        "variationId": 162380
      }
    ]
  },
  "type": "amino-acid"
}