{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2059448173",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.706+717A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1260672218",
        "rs": 1260672218
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102854419,
          "referenceAllele": "T",
          "start": 102854418
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102854419T=",
        "CM000674.2:g.102854419T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103248197,
          "referenceAllele": "T",
          "start": 103248196
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248197T=",
        "CM000674.1:g.103248197T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101772327,
          "referenceAllele": "T",
          "start": 101772326
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101772327T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68184,
          "referenceAllele": "A",
          "start": 68183
        }
      ],
      "hgvs": [
        "NG_008690.1:g.68184A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108992,
          "referenceAllele": "A",
          "start": 108991
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108992A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.706+717A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.706+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.706+717A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.706+717A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.706+717A="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.706+717A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 962,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.691+717A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:n.691+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.706+717A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.706+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1178,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 1178,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.706+717A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 821,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.706+717A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.706+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 1179,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.706+717A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1017,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 1017,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.706+717A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.706+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1203,
          "referenceAllele": "A",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.*366A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:n.*366A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.706+717A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.706+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.706+717A="
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.706+717A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.706+717A="
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.706+717A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 717,
          "referenceAllele": "A",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.706+717A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.706+717A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}