{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 248,
          "referenceAllele": "V",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005218",
      "geneNCBI_id": 3284,
      "geneSymbol": "HSD3B2",
      "hgvs": [
        "NP_001159592.1:p.Val248Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121923",
          "hgvs": "NM_001166120.2:c.742_743delinsAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155270"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27225[alleleid]",
        "alleleId": 27225,
        "preferredName": "NM_000198.4(HSD3B2):c.742_743delinsAA (p.Val248Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/917499",
        "variationId": 917499
      }
    ]
  },
  "type": "amino-acid"
}