{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2190338833",
  "communityStandardTitle": [
    "NM_000137.4(FAH):c.786G= (p.Trp262=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338899",
        "rs": 80338899
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 80173093,
          "referenceAllele": "G",
          "start": 80173092
        }
      ],
      "hgvs": [
        "NC_000015.10:g.80173093G=",
        "CM000677.2:g.80173093G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 80465435,
          "referenceAllele": "G",
          "start": 80465434
        }
      ],
      "hgvs": [
        "NC_000015.9:g.80465435G=",
        "CM000677.1:g.80465435G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 78252490,
          "referenceAllele": "G",
          "start": 78252489
        }
      ],
      "hgvs": [
        "NC_000015.8:g.78252490G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25095,
          "referenceAllele": "G",
          "start": 25094
        }
      ],
      "hgvs": [
        "NG_012833.1:g.25095G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002566"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000682012.1:n.875G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "G",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000561421.6:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453347.2:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000561421.6:c.786G="
          },
          "RefSeq": {
            "hgvs": "NM_000137.4:c.786G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000453347.2:p.Trp262="
          },
          "RefSeq": {
            "hgvs": "NP_000128.1:p.Trp262="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2400,
          "referenceAllele": "G",
          "start": 2399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000646551.1:n.2400G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "G",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000261755.9:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261755.5:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000407106.5:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385080.1:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2814,
          "referenceAllele": "G",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000539156.5:c.576G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454271.1:p.Trp192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000558627.1:n.714G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122,
          "referenceAllele": "G",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000559542.1:n.122G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 944,
          "referenceAllele": "G",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "ENST00000561421.5:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453347.1:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081916607",
      "coordinates": [
        {
          "allele": "G",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_000137.2:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000128.1:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 898,
          "referenceAllele": "G",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "XM_024449872.1:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305640.1:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081916607",
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "G",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_000137.4:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000128.1:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674721",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000561421.6:c.786G="
          },
          "RefSeq": {
            "hgvs": "NM_000137.4:c.786G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000453347.2:p.Trp262="
          },
          "RefSeq": {
            "hgvs": "NP_000128.1:p.Trp262="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_001374377.1:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361306.1:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 868,
          "referenceAllele": "G",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003579",
      "geneNCBI_id": 2184,
      "geneSymbol": "FAH",
      "hgvs": [
        "NM_001374380.1:c.786G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361309.1:p.Trp262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693250"
    }
  ],
  "type": "nucleotide"
}