{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916028163",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 514,
          "referenceAllele": "Q",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001317366.1:p.Gln514His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220143",
          "hgvs": "NM_001330437.2:c.1542G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386779921",
          "hgvs": "NM_001330437.2:c.1542G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622794"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49037[alleleid]",
        "alleleId": 49037,
        "preferredName": "NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=799666[alleleid]",
        "alleleId": 799666,
        "preferredName": "NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40567",
        "RCV": [
          "RCV000077854",
          "RCV000521890",
          "RCV002399355",
          "RCV002490449",
          "RCV003147313",
          "RCV003147314",
          "RCV003147312",
          "RCV004532497"
        ],
        "variationId": 40567
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/811634",
        "RCV": [
          "RCV001001798",
          "RCV001171895",
          "RCV001261024",
          "RCV003989616",
          "RCV004528333"
        ],
        "variationId": 811634
      }
    ]
  },
  "type": "amino-acid"
}