{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828286059",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 147,
          "referenceAllele": "V",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NP_001355073.1:p.Val147Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121919",
          "hgvs": "NM_001368144.1:c.439G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344933",
          "hgvs": "NM_001368144.1:c.439G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27190[alleleid]",
        "alleleId": 27190,
        "preferredName": "NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76518[alleleid]",
        "alleleId": 76518,
        "preferredName": "NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12151",
        "RCV": [
          "RCV000012935",
          "RCV000012936",
          "RCV000012934",
          "RCV000210728",
          "RCV000711385",
          "RCV001804725",
          "RCV003407320"
        ],
        "variationId": 12151
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65610",
        "RCV": [
          "RCV000055820"
        ],
        "variationId": 65610
      }
    ]
  },
  "type": "amino-acid"
}