{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096730",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 319,
          "referenceAllele": "T",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NP_000488.3:p.Thr319Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339881",
          "hgvs": "NM_000497.4:c.956C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147032"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16217[alleleid]",
        "alleleId": 16217,
        "preferredName": "NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1178",
        "RCV": [
          "RCV000001237",
          "RCV001781159",
          "RCV002247232",
          "RCV002496224"
        ],
        "variationId": 1178
      }
    ]
  },
  "type": "amino-acid"
}