{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658828882",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 308,
          "referenceAllele": "N",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_542168.1:p.Asn308Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220158",
          "hgvs": "NM_080601.3:c.922A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180703"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28365[alleleid]",
        "alleleId": 28365,
        "preferredName": "NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13326",
        "RCV": [
          "RCV000014254",
          "RCV000033516",
          "RCV000077863",
          "RCV000156977",
          "RCV000621227",
          "RCV000515324",
          "RCV000576594",
          "RCV000850589",
          "RCV000999988",
          "RCV001253546",
          "RCV001270562",
          "RCV001293867",
          "RCV001813192",
          "RCV003991568",
          "RCV003147284",
          "RCV004541002"
        ],
        "variationId": 13326
      }
    ]
  },
  "type": "amino-acid"
}