{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658656325",
  "communityStandardTitle": [
    "NC_000012.12:g.102854491_102855291del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=462157[alleleid]",
        "alleleId": 462157,
        "preferredName": "NM_000277.3(PAH):c.553_706+647del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/458079",
        "RCV": [
          "RCV000550204"
        ],
        "variationId": 458079
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.103248267_103249067del?assembly=hg19",
        "id": "chr12:g.103248267_103249067del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102854489_102855289del?assembly=hg38",
        "id": "chr12:g.102854489_102855289del"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 102855291,
          "referenceAllele": "ATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCT",
          "start": 102854490
        }
      ],
      "hgvs": [
        "NC_000012.12:g.102854491_102855291del",
        "CM000674.2:g.102854491_102855291del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 103249069,
          "referenceAllele": "ATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCT",
          "start": 103248268
        }
      ],
      "hgvs": [
        "NC_000012.11:g.103248269_103249069del",
        "CM000674.1:g.103248269_103249069del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 101773199,
          "referenceAllele": "ATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTTCT",
          "start": 101772398
        }
      ],
      "hgvs": [
        "NC_000012.10:g.101772399_101773199del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 108922,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 108121
        }
      ],
      "hgvs": [
        "NG_008690.2:g.108122_108922del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616109"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 647,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.6:c.553_706+647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760047"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 962,
          "endIntronDirection": "+",
          "endIntronOffset": 647,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000307000.7:c.538_691+647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS255819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 647,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "ENST00000553106.5:c.553_706+647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369636"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 821,
          "endIntronDirection": "+",
          "endIntronOffset": 647,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_011538422.1:c.553_706+647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS105378"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1179,
          "endIntronDirection": "+",
          "endIntronOffset": 647,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.2:c.553_706+647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS510774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1017,
          "endIntronDirection": "+",
          "endIntronOffset": 647,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.1:c.553_706+647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1133,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.553_*296del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 647,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.553_706+647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS662381"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 647,
          "referenceAllele": "AACATGGGGCACAGTGTTCAAGACTCTGAAGTCCTTGTATAAAACCCATGCTTGCTATGAGTACAATCACATTTTTCCACTTCTTGAAAAGTACTGTGGCTTCCATGAAGATAACATTCCCCAGCTGGAAGACGTTTCTCAGTTCCTGCAGAGTAAGTCCACATCAGGGTCAATGGCCCTGCAGAAAGTTGGGGGAGGATTGAGGCAGAGGAGAGGGAAGGGGAAGACAAGTATGTGGAGGCAAGTATGAAAGCATGTGCTTGTAGGAATGCATGCAGGTTGATTCCTCCAGGAAGAACTAAATTTCACTGTGCTCTGCCTTCCCTCCAGCCCCTACTGTGTTTATCCACTTTCATTCAATCAAACACCTGAGGCTGTGGATTTTGCCGTGTACCTGTCCCTGAAAAGTATTTTCTTTCACACTTAAAGCCCAAGGTGCTTCACTGAGGTTTTTTTTTGTTTTGTTTTGTTTTGTTTGCCCTGTAGTTCCTGCTGTGTTATGAGTTAGGAGTGTGTGTTTGTGTAAGAAATGTGCTATTTTCGGGGATGGTGCCAAGAGCCCTGAGCTCTGAGTCTGTGCATCTGGTATGAATCCTGCCTTCAATCCTCTCCAGCTGAGTAAACCTGCCTCAGTTTTGTCATCTGTCAAATGGACACTGTATCAACTCTTTAGCTTTTCCCATAGGGAAATTATGAGAATGAAGTAAGGTGCTGCATATGGAAACAACCAGCACAGTCTTGCATATACAGCAGGTATTCAGTGAATTTGGACTGAATTGAAATCTGAGTAGCTTAATAGAA",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.553_706+647del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}