{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059456976",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.503A= (p.Tyr168=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199475661",
        "rs": 199475661
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1592961348",
        "rs": 1592961348
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102866602,
          "referenceAllele": "T",
          "start": 102866601
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102866602T=",
        "CM000674.2:g.102866602T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103260380,
          "referenceAllele": "T",
          "start": 103260379
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103260380T=",
        "CM000674.1:g.103260380T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101784510,
          "referenceAllele": "T",
          "start": 101784509
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101784510T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56001,
          "referenceAllele": "A",
          "start": 56000
        }
      ],
      "hgvs": [
        "NG_008690.1:g.56001A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96809,
          "referenceAllele": "A",
          "start": 96808
        }
      ],
      "hgvs": [
        "NG_008690.2:g.96809A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "A",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.503A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.503A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Tyr168="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Tyr168="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 759,
          "referenceAllele": "A",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.488A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Tyr163="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.599A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 10860,
          "referenceAllele": "A",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 10859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.530+10860A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "A",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137975",
      "coordinates": [
        {
          "allele": "A",
          "end": 975,
          "referenceAllele": "A",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137975",
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "A",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838347",
      "coordinates": [
        {
          "allele": "A",
          "end": 814,
          "referenceAllele": "A",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "A",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825137975",
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "A",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.503A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.503A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Tyr168="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Tyr168="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838347",
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "A",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.503A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Tyr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}