{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825631608",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 445,
          "referenceAllele": "S",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NP_001120686.1:p.Ser445Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8238105",
          "hgvs": "NM_001127214.4:c.1334G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152023"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=979859[alleleid]",
        "alleleId": 979859,
        "preferredName": "NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/992094",
        "RCV": [
          "RCV001280410",
          "RCV003479307",
          "RCV004035510"
        ],
        "variationId": 992094
      }
    ]
  },
  "type": "amino-acid"
}