{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825381790",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 153,
          "referenceAllele": "D",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000397",
      "geneNCBI_id": 212,
      "geneSymbol": "ALAS2",
      "hgvs": [
        "NP_001033056.1:p.Asp153Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121085",
          "hgvs": "NM_001037967.4:c.458A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149789"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25513[alleleid]",
        "alleleId": 25513,
        "preferredName": "NM_000032.5(ALAS2):c.569A>T (p.Asp190Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10474",
        "RCV": [
          "RCV003322588"
        ],
        "variationId": 10474
      }
    ]
  },
  "type": "amino-acid"
}