{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645510725",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 162,
          "referenceAllele": "S",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017877",
      "geneNCBI_id": 64802,
      "geneSymbol": "NMNAT1",
      "hgvs": [
        "NP_073624.2:p.Ser162Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338686519",
          "hgvs": "NM_022787.4:c.485C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177981"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431638[alleleid]",
        "alleleId": 431638,
        "preferredName": "NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438133",
        "RCV": [
          "RCV000504848"
        ],
        "variationId": 438133
      }
    ]
  },
  "type": "amino-acid"
}