{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658665912",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 239,
          "referenceAllele": "L",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NP_073624.2:p.Leu239Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA579318",
          "hgvs": "NM_022787.4:c.716T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177981"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=448406[alleleid]",
        "alleleId": 448406,
        "preferredName": "NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/464670",
        "RCV": [
          "RCV000538650"
        ],
        "variationId": 464670
      }
    ]
  },
  "type": "amino-acid"
}