{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828120050",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 268,
          "referenceAllele": "D",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_001350769.1:p.Asp268His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA324458223",
          "hgvs": "NM_001363840.3:c.802G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619519"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868606[alleleid]",
        "alleleId": 1868606,
        "preferredName": "NM_000026.4(ADSL):c.802G>C (p.Asp268His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138451",
        "RCV": [
          "RCV003064660"
        ],
        "variationId": 2138451
      }
    ]
  },
  "type": "amino-acid"
}