{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1519920463",
  "communityStandardTitle": [
    "NM_207352.4(CYP4V2):c.762C= (p.His254=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1217124961",
        "rs": 1217124961
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 186199044,
          "referenceAllele": "C",
          "start": 186199043
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186199044C=",
        "CM000666.2:g.186199044C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 187120198,
          "referenceAllele": "C",
          "start": 187120197
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187120198C=",
        "CM000666.1:g.187120198C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 187357192,
          "referenceAllele": "C",
          "start": 187357191
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187357192C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12525,
          "referenceAllele": "C",
          "start": 12524
        }
      ],
      "hgvs": [
        "NG_007965.1:g.12525C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000733"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "C",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.5:c.762C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.His254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752138",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.762C="
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.762C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.His254="
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.His254="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000378802.4:c.762C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368079.4:p.His254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "ENST00000507209.5:n.1603C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069920133",
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.3:c.762C="
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.His254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1175,
          "referenceAllele": "C",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.2:c.762C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.His254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_006714184.2:c.366C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714247.1:p.His122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_005262935.4:c.762C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262992.1:p.His254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "XM_017008037.1:c.366C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863526.1:p.His122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069920133",
      "coordinates": [
        {
          "allele": "C",
          "end": 1019,
          "referenceAllele": "C",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023198",
      "geneNCBI_id": 285440,
      "geneSymbol": "CYP4V2",
      "hgvs": [
        "NM_207352.4:c.762C="
      ],
      "proteinEffect": {
        "hgvs": "NP_997235.3:p.His254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378802.5:c.762C="
          },
          "RefSeq": {
            "hgvs": "NM_207352.4:c.762C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368079.4:p.His254="
          },
          "RefSeq": {
            "hgvs": "NP_997235.3:p.His254="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}