{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825005613",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 61,
          "referenceAllele": "Q",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000291",
      "geneNCBI_id": 158,
      "geneSymbol": "ADSL",
      "hgvs": [
        "NP_000017.1:p.Gln61His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411634146",
          "hgvs": "NM_000026.3:c.183A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411634150",
          "hgvs": "NM_000026.3:c.183A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146579"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649514[alleleid]",
        "alleleId": 649514,
        "preferredName": "NM_000026.4(ADSL):c.183A>C (p.Gln61His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644664",
        "RCV": [
          "RCV000798632",
          "RCV003325520"
        ],
        "variationId": 644664
      }
    ]
  },
  "type": "amino-acid"
}