{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825029681",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 272,
          "referenceAllele": "R",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NP_000041.2:p.Arg272His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA375229492",
          "hgvs": "NM_000050.4:c.815G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146603"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314227[alleleid]",
        "alleleId": 1314227,
        "preferredName": "NM_054012.4(ASS1):c.815G>A (p.Arg272His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2501087",
        "RCV": [
          "RCV003226684",
          "RCV003459808"
        ],
        "variationId": 2501087
      }
    ]
  },
  "type": "amino-acid"
}