{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059466855",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.241A= (p.Thr81=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62509017",
        "rs": 62509017
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102894846,
          "referenceAllele": "T",
          "start": 102894845
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102894846T=",
        "CM000674.2:g.102894846T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103288624,
          "referenceAllele": "T",
          "start": 103288623
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103288624T=",
        "CM000674.1:g.103288624T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101812754,
          "referenceAllele": "T",
          "start": 101812753
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101812754T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27757,
          "referenceAllele": "A",
          "start": 27756
        }
      ],
      "hgvs": [
        "NG_008690.1:g.27757A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68565,
          "referenceAllele": "A",
          "start": 68564
        }
      ],
      "hgvs": [
        "NG_008690.2:g.68565A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "A",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.241A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.241A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Thr81="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Thr81="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "A",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.226A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Thr76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "A",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000546844.1:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446658.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 328,
          "referenceAllele": "A",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548677.2:n.328A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "A",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000548928.1:n.163A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "referenceAllele": "A",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.337A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "A",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000550978.6:c.225A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551337.5:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447620.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "A",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.330A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "A",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280569",
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "A",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 356,
          "referenceAllele": "A",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280569",
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "A",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "A",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079280569",
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "referenceAllele": "A",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.241A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.241A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Thr81="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Thr81="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 583,
          "referenceAllele": "A",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.241A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Thr81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}