{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830003428",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 223,
          "referenceAllele": "D",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NP_077747.1:p.Asp223Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA013769",
          "hgvs": "NM_024429.2:c.667G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178293"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54862[alleleid]",
        "alleleId": 54862,
        "preferredName": "NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45697",
        "RCV": [
          "RCV000038916",
          "RCV000208297",
          "RCV000284911",
          "RCV000338704",
          "RCV000377013",
          "RCV000766638",
          "RCV000771796",
          "RCV000999607",
          "RCV002390164"
        ],
        "variationId": 45697
      }
    ]
  },
  "type": "amino-acid"
}