{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA180000",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 299,
          "referenceAllele": "M",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014415",
      "geneNCBI_id": 6785,
      "geneSymbol": "ELOVL4",
      "hgvs": [
        "NP_073563.1:p.Met299Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA179999",
          "hgvs": "NM_022726.4:c.895A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573141254",
          "hgvs": "NM_022726.4:c.894_895delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140909[alleleid]",
        "alleleId": 140909,
        "preferredName": "NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1642666[alleleid]",
        "alleleId": 1642666,
        "preferredName": "NM_022726.4(ELOVL4):c.894_895inv (p.Met299Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137206",
        "RCV": [
          "RCV000153195",
          "RCV001514429",
          "RCV000305578",
          "RCV001657789",
          "RCV001657790"
        ],
        "variationId": 137206
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1662442",
        "RCV": [
          "RCV002185737"
        ],
        "variationId": 1662442
      }
    ]
  },
  "type": "amino-acid"
}