{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112918",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 250,
          "referenceAllele": "E",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009580",
      "geneNCBI_id": 9051,
      "geneSymbol": "PSTPIP1",
      "hgvs": [
        "NP_003969.2:p.Glu250Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA150157",
          "hgvs": "NM_003978.5:c.748G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169724"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103702[alleleid]",
        "alleleId": 103702,
        "preferredName": "NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97810",
        "RCV": [
          "RCV000084063",
          "RCV000215780"
        ],
        "variationId": 97810
      }
    ]
  },
  "type": "amino-acid"
}