{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830003481",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 250,
          "referenceAllele": "D",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NP_077747.1:p.Asp250His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA013810",
          "hgvs": "NM_024429.2:c.748G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178293"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=179113[alleleid]",
        "alleleId": 179113,
        "preferredName": "NM_016203.4(PRKAG2):c.1471G>C (p.Asp491His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181480",
        "RCV": [
          "RCV000159016",
          "RCV002515082"
        ],
        "variationId": 181480
      }
    ]
  },
  "type": "amino-acid"
}