{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830397230",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 264,
          "referenceAllele": "N",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008979",
      "geneNCBI_id": 5295,
      "geneSymbol": "PIK3R1",
      "hgvs": [
        "NP_852665.1:p.Asn264Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602710",
          "hgvs": "NM_181524.2:c.790A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184261"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363140[alleleid]",
        "alleleId": 363140,
        "preferredName": "NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376261",
        "RCV": [
          "RCV000421102",
          "RCV000431985",
          "RCV000434688",
          "RCV000434835",
          "RCV000444300",
          "RCV001290352",
          "RCV003458427"
        ],
        "variationId": 376261
      }
    ]
  },
  "type": "amino-acid"
}