{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA214807",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2,
          "referenceAllele": "A",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003151",
      "geneNCBI_id": 1892,
      "geneSymbol": "ECHS1",
      "hgvs": [
        "NP_004083.3:p.Ala2Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214806",
          "hgvs": "NM_004092.4:c.5C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169826"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166207[alleleid]",
        "alleleId": 166207,
        "preferredName": "NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156434",
        "RCV": [
          "RCV000144497",
          "RCV000167582",
          "RCV000481050"
        ],
        "variationId": 156434
      }
    ]
  },
  "type": "amino-acid"
}