{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA245229",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 43,
          "referenceAllele": "V",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NP_003733.2:p.Val43Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA245228",
          "hgvs": "NM_003742.4:c.127G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169506"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194380[alleleid]",
        "alleleId": 194380,
        "preferredName": "NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197219",
        "RCV": [
          "RCV000178197",
          "RCV001130408",
          "RCV003937611"
        ],
        "variationId": 197219
      }
    ]
  },
  "type": "amino-acid"
}