{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573209068",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 430,
          "referenceAllele": "D",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_001350769.1:p.Asp430Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA313117",
          "hgvs": "NM_001363840.3:c.1288G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619519"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203861[alleleid]",
        "alleleId": 203861,
        "preferredName": "NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1474151",
        "RCV": [
          "RCV001971049"
        ],
        "variationId": 1474151
      }
    ]
  },
  "type": "amino-acid"
}