{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645427489",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1290,
          "referenceAllele": "N",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NP_003631.2:p.Asn1290Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5174147",
          "hgvs": "NM_003640.5:c.3869A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169412"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=310614[alleleid]",
        "alleleId": 310614,
        "preferredName": "NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/364552",
        "RCV": [
          "RCV000355008",
          "RCV000757404",
          "RCV004022089"
        ],
        "variationId": 364552
      }
    ]
  },
  "type": "amino-acid"
}