{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1495,
          "referenceAllele": "K",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001348",
      "geneNCBI_id": 54809,
      "geneSymbol": "SAMD9",
      "hgvs": [
        "NP_001180236.1:p.Lys1495Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114859",
          "hgvs": "NM_001193307.1:c.4483A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156802"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16268[alleleid]",
        "alleleId": 16268,
        "preferredName": "NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1229",
        "RCV": [
          "RCV000001288",
          "RCV003555884"
        ],
        "variationId": 1229
      }
    ]
  },
  "type": "amino-acid"
}