{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827283130",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 73,
          "referenceAllele": "G",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007207",
      "geneNCBI_id": 9526,
      "geneSymbol": "MPDU1",
      "hgvs": [
        "NP_001317002.1:p.Gly73Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117816",
          "hgvs": "NM_001330073.1:c.218G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657162"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20906[alleleid]",
        "alleleId": 20906,
        "preferredName": "NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5867",
        "RCV": [
          "RCV000006225",
          "RCV000081186"
        ],
        "variationId": 5867
      }
    ]
  },
  "type": "amino-acid"
}