{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102278",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2993,
          "referenceAllele": "N",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NP_060360.3:p.Asn2993Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA090981",
          "hgvs": "NM_017890.5:c.8978A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17860[alleleid]",
        "alleleId": 17860,
        "preferredName": "NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2821",
        "RCV": [
          "RCV000002955",
          "RCV000081920",
          "RCV000513475",
          "RCV002313703"
        ],
        "variationId": 2821
      }
    ]
  },
  "type": "amino-acid"
}