{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827730037",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 447,
          "referenceAllele": "D",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NP_001340520.1:p.Asp447Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7266765",
          "hgvs": "NM_001353591.2:c.1339G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625611"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409149[alleleid]",
        "alleleId": 409149,
        "preferredName": "NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424218",
        "RCV": [
          "RCV000820142",
          "RCV002526975",
          "RCV000755203"
        ],
        "variationId": 424218
      }
    ]
  },
  "type": "amino-acid"
}