{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645470654",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NP_001245137.1:p.Gly216Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251838",
          "hgvs": "NM_001258208.2:c.647G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160172"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16517[alleleid]",
        "alleleId": 16517,
        "preferredName": "NM_000190.4(HMBS):c.647G>A (p.Gly216Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1478",
        "RCV": [
          "RCV000001543",
          "RCV001851552"
        ],
        "variationId": 1478
      }
    ]
  },
  "type": "amino-acid"
}