{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059446018",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.842C= (p.Pro281=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5030851",
        "rs": 5030851
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 102852815,
          "referenceAllele": "G",
          "start": 102852814
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102852815G=",
        "CM000674.2:g.102852815G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 103246593,
          "referenceAllele": "G",
          "start": 103246592
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103246593G=",
        "CM000674.1:g.103246593G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 101770723,
          "referenceAllele": "G",
          "start": 101770722
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101770723G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 69788,
          "referenceAllele": "C",
          "start": 69787
        }
      ],
      "hgvs": [
        "NG_008690.1:g.69788C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 110596,
          "referenceAllele": "C",
          "start": 110595
        }
      ],
      "hgvs": [
        "NG_008690.2:g.110596C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.842C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.842C="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.842C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Pro281="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Pro281="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.827C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Pro276="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.601C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.842C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3,
          "referenceAllele": "C",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.3C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138092",
      "coordinates": [
        {
          "allele": "C",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.842C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.842C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138092",
      "coordinates": [
        {
          "allele": "C",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.842C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838389",
      "coordinates": [
        {
          "allele": "C",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.842C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825138092",
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.842C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.842C="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.842C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Pro281="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Pro281="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827838389",
      "coordinates": [
        {
          "allele": "C",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.842C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Pro281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}