{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645439463",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 678,
          "referenceAllele": "N",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NP_775099.2:p.Asn678Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2092073",
          "hgvs": "NM_173076.3:c.2033A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183278"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=285314[alleleid]",
        "alleleId": 285314,
        "preferredName": "NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/334259",
        "RCV": [
          "RCV000345632",
          "RCV001358602",
          "RCV003155165",
          "RCV002487485"
        ],
        "variationId": 334259
      }
    ]
  },
  "type": "amino-acid"
}