{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA273125",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 240,
          "referenceAllele": "K",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NP_001604.1:p.Lys240Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007003",
          "hgvs": "NM_001613.4:c.720G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377511328",
          "hgvs": "NM_001613.4:c.720G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167508"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175327[alleleid]",
        "alleleId": 175327,
        "preferredName": "NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2738599[alleleid]",
        "alleleId": 2738599,
        "preferredName": "NM_001613.4(ACTA2):c.720G>T (p.Lys240Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162701",
        "RCV": [
          "RCV000150127",
          "RCV000622410",
          "RCV000788670"
        ],
        "variationId": 162701
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2573657",
        "RCV": [
          "RCV003317993"
        ],
        "variationId": 2573657
      }
    ]
  },
  "type": "amino-acid"
}