{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829819769",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 210,
          "referenceAllele": "D",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023595",
      "geneNCBI_id": 55187,
      "geneSymbol": "VPS13D",
      "hgvs": [
        "NP_056193.2:p.Asp210Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA601270",
          "hgvs": "NM_015378.4:c.628G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174509"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1325928[alleleid]",
        "alleleId": 1325928,
        "preferredName": "NM_015378.4(VPS13D):c.628G>A (p.Asp210Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1334954",
        "RCV": [
          "RCV001815662"
        ],
        "variationId": 1334954
      }
    ]
  },
  "type": "amino-acid"
}