{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658820380",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 58,
          "referenceAllele": "N",
          "start": 57
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_542168.1:p.Asn58Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA235313",
          "hgvs": "NM_080601.3:c.174C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA261561",
          "hgvs": "NM_080601.3:c.174C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180703"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48958[alleleid]",
        "alleleId": 48958,
        "preferredName": "NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48959[alleleid]",
        "alleleId": 48959,
        "preferredName": "NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40488",
        "RCV": [
          "RCV000037629",
          "RCV000157677",
          "RCV000587067",
          "RCV000556984",
          "RCV001358687",
          "RCV001813243"
        ],
        "variationId": 40488
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40489",
        "RCV": [
          "RCV000033457",
          "RCV000037630",
          "RCV000211846",
          "RCV000515267",
          "RCV000588173"
        ],
        "variationId": 40489
      }
    ]
  },
  "type": "amino-acid"
}