{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645441146",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 43,
          "referenceAllele": "R",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000033",
      "geneNCBI_id": 21,
      "geneSymbol": "ABCA3",
      "hgvs": [
        "NP_001080.2:p.Arg43His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7841779",
          "hgvs": "NM_001089.3:c.128G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150972"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=230630[alleleid]",
        "alleleId": 230630,
        "preferredName": "NM_001089.3(ABCA3):c.128G>A (p.Arg43His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228321",
        "RCV": [
          "RCV000221771",
          "RCV001804948",
          "RCV002381741",
          "RCV003556277"
        ],
        "variationId": 228321
      }
    ]
  },
  "type": "amino-acid"
}