{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059449067",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.694C= (p.Gln232=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62507348",
        "rs": 62507348
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102855148,
          "referenceAllele": "G",
          "start": 102855147
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102855148G=",
        "CM000674.2:g.102855148G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103248926,
          "referenceAllele": "G",
          "start": 103248925
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248926G=",
        "CM000674.1:g.103248926G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101773056,
          "referenceAllele": "G",
          "start": 101773055
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101773056G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67455,
          "referenceAllele": "C",
          "start": 67454
        }
      ],
      "hgvs": [
        "NG_008690.1:g.67455C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108263,
          "referenceAllele": "C",
          "start": 108262
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108263C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.694C="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.694C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln232="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln232="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Gln227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.790C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138045",
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138045",
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "C",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838367",
      "coordinates": [
        {
          "allele": "C",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138045",
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.694C="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.694C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln232="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln232="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838367",
      "coordinates": [
        {
          "allele": "C",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}