{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645461742",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 250,
          "referenceAllele": "T",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018324",
      "geneNCBI_id": 80270,
      "geneSymbol": "HSD3B7",
      "hgvs": [
        "NP_079469.2:p.Thr250Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8018104",
          "hgvs": "NM_025193.4:c.748A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178785"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=255691[alleleid]",
        "alleleId": 255691,
        "preferredName": "NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/261873",
        "RCV": [
          "RCV000248338",
          "RCV001640574",
          "RCV001701917"
        ],
        "variationId": 261873
      }
    ]
  },
  "type": "amino-acid"
}