{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828530377",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 60,
          "referenceAllele": "D",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NP_001361554.1:p.Asp60Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA235316",
          "hgvs": "NM_001374625.1:c.178G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16042833",
          "hgvs": "NM_001374625.1:c.177_178delinsAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS710630"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48965[alleleid]",
        "alleleId": 48965,
        "preferredName": "NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360019[alleleid]",
        "alleleId": 360019,
        "preferredName": "NM_002834.5(PTPN11):c.180_181delinsAA (p.Asp61Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40495",
        "RCV": [
          "RCV000033463",
          "RCV000157678",
          "RCV000576434",
          "RCV000599619",
          "RCV001813245",
          "RCV001775072",
          "RCV002408496",
          "RCV003224113",
          "RCV003147304",
          "RCV003147305",
          "RCV004532485"
        ],
        "variationId": 40495
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372703",
        "RCV": [
          "RCV000412983"
        ],
        "variationId": 372703
      }
    ]
  },
  "type": "amino-acid"
}