{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580313329",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 671,
          "referenceAllele": "F",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003395",
      "geneNCBI_id": 2050,
      "geneSymbol": "EPHB4",
      "hgvs": [
        "NP_004435.3:p.Phe671Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA368570180",
          "hgvs": "NM_004444.5:c.2013C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368570181",
          "hgvs": "NM_004444.5:c.2013C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368570186",
          "hgvs": "NM_004444.5:c.2011T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170147"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1692445[alleleid]",
        "alleleId": 1692445,
        "preferredName": "NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1700049",
        "RCV": [
          "RCV002274298"
        ],
        "variationId": 1700049
      }
    ]
  },
  "type": "amino-acid"
}