{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA260117",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 23,
          "referenceAllele": "F",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000143",
      "geneNCBI_id": 70,
      "geneSymbol": "ACTC1",
      "hgvs": [
        "NP_005150.1:p.Phe23Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019869",
          "hgvs": "NM_005159.5:c.67T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391633249",
          "hgvs": "NM_005159.5:c.69T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391633250",
          "hgvs": "NM_005159.5:c.69T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170813"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44312[alleleid]",
        "alleleId": 44312,
        "preferredName": "NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445306[alleleid]",
        "alleleId": 445306,
        "preferredName": "NM_005159.5(ACTC1):c.69T>A (p.Phe23Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=510523[alleleid]",
        "alleleId": 510523,
        "preferredName": "NM_005159.5(ACTC1):c.69T>G (p.Phe23Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35647",
        "RCV": [
          "RCV000029294",
          "RCV001342095",
          "RCV001568007"
        ],
        "variationId": 35647
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450168",
        "RCV": [
          "RCV000523252"
        ],
        "variationId": 450168
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/520286",
        "RCV": [
          "RCV000620164"
        ],
        "variationId": 520286
      }
    ]
  },
  "type": "amino-acid"
}