{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA138598",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 43,
          "referenceAllele": "V",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016512",
      "geneNCBI_id": 7809,
      "geneSymbol": "BSND",
      "hgvs": [
        "NP_476517.1:p.Val43Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138597",
          "hgvs": "NM_057176.3:c.127G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55710[alleleid]",
        "alleleId": 55710,
        "preferredName": "NM_057176.3(BSND):c.127G>A (p.Val43Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46545",
        "RCV": [
          "RCV000039815",
          "RCV000288895",
          "RCV000710755",
          "RCV001273325"
        ],
        "variationId": 46545
      }
    ]
  },
  "type": "amino-acid"
}