{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830002961",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 292,
          "referenceAllele": "S",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "NP_075065.3:p.Ser292Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8114485",
          "hgvs": "NM_022914.3:c.875G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=997037[alleleid]",
        "alleleId": 997037,
        "preferredName": "NM_001082486.2(ACD):c.884G>A (p.Ser295Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/999952",
        "RCV": [
          "RCV001296018",
          "RCV002451653"
        ],
        "variationId": 999952
      }
    ]
  },
  "type": "amino-acid"
}