{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA470832525",
  "communityStandardTitle": [
    "NM_000769.4(CYP2C19):c.990C>A (p.Val330=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.96602622C>A?assembly=hg19",
        "id": "chr10:g.96602622C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3758580",
        "rs": 3758580
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 94842865,
          "referenceAllele": "C",
          "start": 94842864
        }
      ],
      "hgvs": [
        "NC_000010.11:g.94842865C>A",
        "CM000672.2:g.94842865C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 96602622,
          "referenceAllele": "C",
          "start": 96602621
        }
      ],
      "hgvs": [
        "NC_000010.10:g.96602622C>A",
        "CM000672.1:g.96602622C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 96592612,
          "referenceAllele": "C",
          "start": 96592611
        }
      ],
      "hgvs": [
        "NC_000010.9:g.96592612C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85160,
          "referenceAllele": "C",
          "start": 85159
        }
      ],
      "hgvs": [
        "NG_008384.2:g.85160C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85185,
          "referenceAllele": "C",
          "start": 85184
        }
      ],
      "hgvs": [
        "NG_008384.3:g.85185C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000371321.9:c.990C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360372.3:p.Val330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750768",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371321.9:c.990C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000769.4:c.990C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360372.3:p.Val330="
          },
          "RefSeq": {
            "hgvs": "NP_000760.1:p.Val330="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000645461.1:n.1901C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "ENST00000371321.7:c.990C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360372.3:p.Val330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1753,
          "referenceAllele": "C",
          "start": 1752
        }
      ],
      "hgvs": [
        "ENST00000464755.1:c.1753C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483243.1:n.1753C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076680819",
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "NM_000769.2:c.990C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000760.1:p.Val330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076680819",
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002621",
      "geneNCBI_id": 1557,
      "geneSymbol": "CYP2C19",
      "hgvs": [
        "NM_000769.4:c.990C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000760.1:p.Val330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371321.9:c.990C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000769.4:c.990C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360372.3:p.Val330="
          },
          "RefSeq": {
            "hgvs": "NP_000760.1:p.Val330="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}