{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827479079",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 415,
          "referenceAllele": "T",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008571",
      "geneNCBI_id": 11252,
      "geneSymbol": "PACSIN2",
      "hgvs": [
        "NP_001336897.1:p.Thr415Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411809886",
          "hgvs": "NM_001349968.1:c.1244C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA411809889",
          "hgvs": "NM_001349968.1:c.1243A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624739"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1858933[alleleid]",
        "alleleId": 1858933,
        "preferredName": "NM_001184970.3(PACSIN2):c.1361C>G (p.Thr454Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1801741",
        "RCV": [
          "RCV002463898"
        ],
        "variationId": 1801741
      }
    ]
  },
  "type": "amino-acid"
}