{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573096103",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 58,
          "referenceAllele": "T",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023302",
      "geneNCBI_id": 80201,
      "geneSymbol": "HKDC1",
      "hgvs": [
        "NP_079406.4:p.Thr58Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5531084",
          "hgvs": "NM_025130.4:c.173C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673948"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1311497[alleleid]",
        "alleleId": 1311497,
        "preferredName": "NM_025130.4(HKDC1):c.173C>T (p.Thr58Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1321242",
        "RCV": [
          "RCV001779345"
        ],
        "variationId": 1321242
      }
    ]
  },
  "type": "amino-acid"
}