{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229665",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.620A>G (p.Asn207Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1605462",
        "active": true,
        "id": "COSM1605462"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108501[alleleid]",
        "alleleId": 108501,
        "preferredName": "NM_000277.3(PAH):c.620A>G (p.Asn207Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102765",
        "RCV": [
          "RCV000089015",
          "RCV000668775"
        ],
        "variationId": 102765
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103249000T>C?assembly=hg19",
        "id": "chr12:g.103249000T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102855222T>C?assembly=hg38",
        "id": "chr12:g.102855222T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62508721",
        "rs": 62508721
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102855222-T-C?dataset=gnomad_r4",
        "id": "12-102855222-T-C",
        "variant": "12:102855222 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 102855222,
          "referenceAllele": "T",
          "start": 102855221
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102855222T>C",
        "CM000674.2:g.102855222T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 103249000,
          "referenceAllele": "T",
          "start": 103248999
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103249000T>C",
        "CM000674.1:g.103249000T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 101773130,
          "referenceAllele": "T",
          "start": 101773129
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101773130T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67381,
          "referenceAllele": "A",
          "start": 67380
        }
      ],
      "hgvs": [
        "NG_008690.1:g.67381A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108189,
          "referenceAllele": "A",
          "start": 108188
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108189A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "A",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Asn207Ser",
        "hgvsWellDefined": "ENSP00000448059.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.620A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.620A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Asn207Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Asn207Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "A",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.605A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Asn202Ser",
        "hgvsWellDefined": "ENSP00000303500.2:p.Asn202Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.716A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "A",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Asn207Ser",
        "hgvsWellDefined": "ENSP00000448059.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105299",
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "A",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Asn207Ser",
        "hgvsWellDefined": "NP_000268.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "referenceAllele": "A",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Asn207Ser",
        "hgvsWellDefined": "XP_011536724.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105299",
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "A",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Asn207Ser",
        "hgvsWellDefined": "NP_000268.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037535",
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "A",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Asn207Ser",
        "hgvsWellDefined": "NP_001341233.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "A",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Asn207Ser",
        "hgvsWellDefined": "XP_016874859.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105299",
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "A",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Asn207Ser",
        "hgvsWellDefined": "NP_000268.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.620A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.620A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Asn207Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Asn207Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037535",
      "coordinates": [
        {
          "allele": "G",
          "end": 962,
          "referenceAllele": "A",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.620A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Asn207Ser",
        "hgvsWellDefined": "NP_001341233.1:p.Asn207Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}