{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645294412",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 139,
          "referenceAllele": "E",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_542168.1:p.Glu139Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA177671",
          "hgvs": "NM_080601.3:c.417G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA261590",
          "hgvs": "NM_080601.3:c.417G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180703"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48982[alleleid]",
        "alleleId": 48982,
        "preferredName": "NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48983[alleleid]",
        "alleleId": 48983,
        "preferredName": "NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40512",
        "RCV": [
          "RCV000033490",
          "RCV000212894",
          "RCV000824742",
          "RCV000995621",
          "RCV001267275"
        ],
        "variationId": 40512
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40513",
        "RCV": [
          "RCV000033491",
          "RCV000077858",
          "RCV000357736",
          "RCV000521568",
          "RCV000515221",
          "RCV000617179",
          "RCV000585988",
          "RCV000626830",
          "RCV000824741",
          "RCV001003604",
          "RCV001813249",
          "RCV003147306",
          "RCV003147307",
          "RCV004528153"
        ],
        "variationId": 40513
      }
    ]
  },
  "type": "amino-acid"
}