{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825590042",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 332,
          "referenceAllele": "D",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_001116850.1:p.Asp332His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351469",
          "hgvs": "NM_001123378.3:c.994G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645372666",
          "hgvs": "NM_001123378.3:c.[994G>C;1191+600G>A]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151928"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205025[alleleid]",
        "alleleId": 205025,
        "preferredName": "NM_000026.4(ADSL):c.994G>C (p.Asp332His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242557",
        "RCV": [
          "RCV000990447"
        ],
        "variationId": 242557
      }
    ]
  },
  "type": "amino-acid"
}