{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA218967",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 126,
          "referenceAllele": "D",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NP_000321.1:p.Asp126His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA218965",
          "hgvs": "NM_000330.3:c.376G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146875"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78965[alleleid]",
        "alleleId": 78965,
        "preferredName": "NM_000330.4(RS1):c.376G>C (p.Asp126His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68074",
        "RCV": [
          "RCV000058878"
        ],
        "variationId": 68074
      }
    ]
  },
  "type": "amino-acid"
}