{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916022230",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 423,
          "referenceAllele": "H",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_001305016.1:p.His423Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252523",
          "hgvs": "NM_001318087.2:c.1267C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640175"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18031[alleleid]",
        "alleleId": 18031,
        "preferredName": "NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2992",
        "RCV": [
          "RCV000003126",
          "RCV000192225",
          "RCV000411474",
          "RCV000634570",
          "RCV000723415"
        ],
        "variationId": 2992
      }
    ]
  },
  "type": "amino-acid"
}