{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1519884558",
  "communityStandardTitle": [
    "NM_207352.4(CYP4V2):c.971A= (p.Asp324=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199476195",
        "rs": 199476195
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186201326,
          "referenceAllele": "A",
          "start": 186201325
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186201326A=",
        "CM000666.2:g.186201326A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187122480,
          "referenceAllele": "A",
          "start": 187122479
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187122480A=",
        "CM000666.1:g.187122480A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187359474,
          "referenceAllele": "A",
          "start": 187359473
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187359474A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14807,
          "referenceAllele": "A",
          "start": 14806
        }
      ],
      "hgvs": [
        "NG_007965.1:g.14807A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000733"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "A",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.5:c.971A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.Asp324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.971A="
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.971A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.Asp324="
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.Asp324="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "A",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.4:c.971A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.Asp324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1812,
          "referenceAllele": "A",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000507209.5:n.1812A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069920134",
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "A",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.3:c.971A="
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.Asp324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1384,
          "referenceAllele": "A",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.2:c.971A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.Asp324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "A",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_006714184.2:c.575A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714247.1:p.Asp192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "A",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.4:c.971A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.Asp324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1033,
          "referenceAllele": "A",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_017008037.1:c.575A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863526.1:p.Asp192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069920134",
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "A",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.4:c.971A="
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.Asp324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.971A="
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.971A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.Asp324="
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.Asp324="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}