{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2739277283",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.1199+88C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3033360[alleleid]",
        "alleleId": 3033360,
        "preferredName": "NM_000277.3(PAH):c.1199+88C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2878559",
        "RCV": [
          "RCV003597758"
        ],
        "variationId": 2878559
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2499613739",
        "rs": 2499613739
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102843558,
          "referenceAllele": "G",
          "start": 102843557
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102843558G>A",
        "CM000674.2:g.102843558G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 103237336,
          "referenceAllele": "G",
          "start": 103237335
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103237336G>A",
        "CM000674.1:g.103237336G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101761466,
          "referenceAllele": "G",
          "start": 101761465
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101761466G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79045,
          "referenceAllele": "C",
          "start": 79044
        }
      ],
      "hgvs": [
        "NG_008690.1:g.79045C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119853,
          "referenceAllele": "C",
          "start": 119852
        }
      ],
      "hgvs": [
        "NG_008690.2:g.119853C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1313,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.1199+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.1199+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1199+88C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1199+88C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.1199+88C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.1199+88C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1455,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.1184+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:n.1184+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 958,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549247.6:n.958+88C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 861,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 861,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551114.2:n.861+88C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1672,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1672,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.1199+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:n.1199+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635477.1:c.303+88C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 714,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000635528.1:n.714+88C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1671,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1671,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.1199+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.1199+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1257,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.1142+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:n.1142+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1672,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1672,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.1199+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.1199+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1510,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.1199+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.1199+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1313,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1313,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.1199+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:n.1199+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.1199+88C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.1199+88C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:n.1199+88C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:n.1199+88C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "endIntronDirection": "+",
          "endIntronOffset": 88,
          "referenceAllele": "C",
          "start": 1541,
          "startIntronDirection": "+",
          "startIntronOffset": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.1199+88C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:n.1199+88C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}