{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825579449",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 73,
          "referenceAllele": "H",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010820",
      "geneNCBI_id": 4068,
      "geneSymbol": "SH2D1A",
      "hgvs": [
        "NP_001108409.1:p.His73Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414124395",
          "hgvs": "NM_001114937.3:c.219T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA414124397",
          "hgvs": "NM_001114937.3:c.219T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151823"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=951588[alleleid]",
        "alleleId": 951588,
        "preferredName": "NM_002351.5(SH2D1A):c.219T>A (p.His73Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/963742",
        "RCV": [
          "RCV001237812",
          "RCV002069308"
        ],
        "variationId": 963742
      }
    ]
  },
  "type": "amino-acid"
}