{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229522",
  "communityStandardTitle": [
    "NM_000277.3(PAH):c.359G>A (p.Trp120Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=108392[alleleid]",
        "alleleId": 108392,
        "preferredName": "NM_000277.3(PAH):c.359G>A (p.Trp120Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/102656",
        "RCV": [
          "RCV000088903",
          "RCV001199994"
        ],
        "variationId": 102656
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103271322C>T?assembly=hg19",
        "id": "chr12:g.103271322C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102877544C>T?assembly=hg38",
        "id": "chr12:g.102877544C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199475586",
        "rs": 199475586
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102877544,
          "referenceAllele": "C",
          "start": 102877543
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102877544C>T",
        "CM000674.2:g.102877544C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 103271322,
          "referenceAllele": "C",
          "start": 103271321
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103271322C>T",
        "CM000674.1:g.103271322C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101795452,
          "referenceAllele": "C",
          "start": 101795451
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101795452C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45059,
          "referenceAllele": "G",
          "start": 45058
        }
      ],
      "hgvs": [
        "NG_008690.1:g.45059G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85867,
          "referenceAllele": "G",
          "start": 85866
        }
      ],
      "hgvs": [
        "NG_008690.2:g.85867G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Trp120Ter",
        "hgvsWellDefined": "ENSP00000448059.1:p.Trp120_Lys452delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.359G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.359G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Trp120Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Trp120Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.344G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303500.2:p.Trp115Ter",
        "hgvsWellDefined": "ENSP00000303500.2:p.Trp115_Lys447delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000549111.5:n.455G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000550978.6:c.343G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551337.5:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447620.1:p.Trp120Ter",
        "hgvsWellDefined": "ENSP00000447620.1:p.Trp120_Leu136del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000551988.5:n.448G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448059.1:p.Trp120Ter",
        "hgvsWellDefined": "ENSP00000448059.1:p.Trp120_Lys452delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229523",
      "coordinates": [
        {
          "allele": "A",
          "end": 831,
          "referenceAllele": "G",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.1:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Trp120Ter",
        "hgvsWellDefined": "NP_000268.1:p.Trp120_Lys452delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536724.1:p.Trp120Ter",
        "hgvsWellDefined": "XP_011536724.1:p.Trp120_Lys433delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229523",
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Trp120Ter",
        "hgvsWellDefined": "NP_000268.1:p.Trp120_Lys452delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037435",
      "coordinates": [
        {
          "allele": "A",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Trp120Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Trp120_Lys452delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Trp120Ter",
        "hgvsWellDefined": "XP_016874859.1:p.Trp120_Leu240delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnIleProAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229523",
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Trp120Ter",
        "hgvsWellDefined": "NP_000268.1:p.Trp120_Lys452delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.359G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.359G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Trp120Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Trp120Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037435",
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.359G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Trp120Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Trp120_Lys452delinsPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}