{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658821010",
  "communityStandardTitle": [
    "NM_000310.4(PPT1):c.721del (p.Ser241ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=541186[alleleid]",
        "alleleId": 541186,
        "preferredName": "NM_000310.4(PPT1):c.721del (p.Ser241fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/557311",
        "RCV": [
          "RCV000673437"
        ],
        "variationId": 557311
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40078565del?assembly=hg38",
        "id": "chr1:g.40078565del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553166499",
        "rs": 1553166499
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 40078566,
          "referenceAllele": "A",
          "start": 40078565
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40078566del",
        "CM000663.2:g.40078566del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 40544238,
          "referenceAllele": "A",
          "start": 40544237
        }
      ],
      "hgvs": [
        "NC_000001.10:g.40544238del",
        "CM000663.1:g.40544238del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 40316825,
          "referenceAllele": "A",
          "start": 40316824
        }
      ],
      "hgvs": [
        "NC_000001.9:g.40316825del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 23906,
          "referenceAllele": "T",
          "start": 23905
        }
      ],
      "hgvs": [
        "NG_009192.1:g.23906del",
        "LRG_690:g.23906del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001471"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 732,
          "referenceAllele": "T",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.8:c.718del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.4:p.Ser240ArgfsTer?",
        "hgvsWellDefined": "ENSP00000394863.4:p.[Ser240_Gly244delinsArgSerGlyLeuAsp;Tyr246_Gln250delinsThrGluVal;Glu253_Ile255delinsProArgLys;Leu257_Asp266delinsPheProTyrArgArgProProCysThrHis;Leu268delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755462"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 735,
          "referenceAllele": "T",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.6:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.2:p.Ser241ArgfsTer7",
        "hgvsWellDefined": "ENSP00000403207.2:p.[Ser241_Asp243delinsArg;Leu245_Asn252delinsThr;Gly254_Glu262delinsTrp;Asp264_Glu270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755765"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 434,
          "referenceAllele": "T",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.7:c.412del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:p.Ser138ArgfsTer?",
        "hgvsWellDefined": "ENSP00000392293.2:p.[Ser138_Gly142delinsArgSerGlyLeuAsp;Tyr144_Gln148delinsThrGluVal;Glu151_Ile153delinsProArgLys;Leu155_Asp164delinsPheProTyrArgArgProProCysThrHis;Leu166delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 504,
          "referenceAllele": "T",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.7:c.490del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.3:p.Ser164ArgfsTer?",
        "hgvsWellDefined": "ENSP00000436695.3:p.[Ser164_Gly168delinsArgSerGlyLeuAsp;Tyr170_Gln174delinsThrGluVal;Glu177_Ile179delinsProArgLys;Leu181_Asp190delinsPheProTyrArgArgProProCysThrHis;Leu192delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 323,
          "referenceAllele": "T",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.6:c.64del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:p.Ser22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000434007.1:p.[Ser22_Gly26delinsArgSerGlyLeuAsp;Tyr28_Gln32delinsThrGluVal;Glu35_Ile37delinsProArgLys;Leu39_Asp48delinsPheProTyrArgArgProProCysThrHis;Leu50delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759160"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 805,
          "referenceAllele": "T",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.6:c.*344del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*344del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 699,
          "referenceAllele": "T",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641083.1:c.699del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 958,
          "referenceAllele": "T",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641236.1:n.958del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 737,
          "referenceAllele": "T",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641319.1:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493128.1:p.Ser241ArgfsTer?",
        "hgvsWellDefined": "ENSP00000493128.1:p.[Ser241_Gly245delinsArgSerGlyLeuAsp;Tyr247_Gln251delinsThrGluVal;Glu254_Ile256delinsProArgLys;Leu258_Tyr264delinsPheProTyrArgArgProProCys;Gln266delinsHisSer;Cys268_Leu270delinsAlaHisCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 1651,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641381.1:c.149-1652del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766046"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641471.1:c.808del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493146.1:p.Ser270ArgfsTer?",
        "hgvsWellDefined": "ENSP00000493146.1:p.[Ser270_Gly274delinsArgSerGlyLeuAsp;Tyr276_Gln280delinsThrGluVal;Glu283_Ile285delinsProArgLys;Leu287_Asp296delinsPheProTyrArgArgProProCysThrHis;Leu298delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 730,
          "referenceAllele": "T",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641691.1:c.*573del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492910.1:n.*573del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 313,
          "referenceAllele": "T",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000641924.1:c.*150del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493063.1:n.*150del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766438"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 735,
          "referenceAllele": "T",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000642050.2:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493153.1:p.Ser241ArgfsTer?",
        "hgvsWellDefined": "ENSP00000493153.1:p.[Ser241_Gly245delinsArgSerGlyLeuAsp;Tyr247_Gln251delinsThrGluVal;Glu254_Ile256delinsProArgLys;Leu258_Asp267delinsPheProTyrArgArgProProCysThrHis;Leu269delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.721del"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.721del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Ser241ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Ser241ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 118,
          "referenceAllele": "T",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372775.2:n.118del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS269300"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000372779.8:c.808del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361865.4:p.Ser270ArgfsTer?",
        "hgvsWellDefined": "ENSP00000361865.4:p.Ser270_Glu271delinsArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269301"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1186,
          "referenceAllele": "T",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000433473.7:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394863.3:p.Ser241ArgfsTer?",
        "hgvsWellDefined": "ENSP00000394863.3:p.[Ser241_Gly245delinsArgSerGlyLeuAsp;Tyr247_Gln251delinsThrGluVal;Glu254_Ile256delinsProArgLys;Leu258_Asp267delinsPheProTyrArgArgProProCysThrHis;Leu269delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292562"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 406,
          "referenceAllele": "T",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000439754.5:c.406del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403207.1:p.Ser136ArgfsTer7",
        "hgvsWellDefined": "ENSP00000403207.1:p.[Ser136_Asp138delinsArg;Leu140_Asn147delinsThr;Gly149_Glu157delinsTrp;Asp159_Glu165del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295582"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000449045.6:c.412del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392293.2:p.Ser138ArgfsTer?",
        "hgvsWellDefined": "ENSP00000392293.2:p.[Ser138_Gly142delinsArgSerGlyLeuAsp;Tyr144_Gln148delinsThrGluVal;Glu151_Ile153delinsProArgLys;Leu155_Asp164delinsPheProTyrArgArgProProCysThrHis;Leu166delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 505,
          "referenceAllele": "T",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000527311.6:c.496del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436695.2:p.Ser166ArgfsTer?",
        "hgvsWellDefined": "ENSP00000436695.2:p.[Ser166_Gly170delinsArgSerGlyLeuAsp;Tyr172_Gln176delinsThrGluVal;Glu179_Ile181delinsProArgLys;Leu183_Asp192delinsPheProTyrArgArgProProCysThrHis;Leu194delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353039"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 728,
          "referenceAllele": "T",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000529905.5:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432053.1:p.Ser241ArgfsTer?",
        "hgvsWellDefined": "ENSP00000432053.1:p.[Ser241_Gly245delinsArgSerGlyLeuAsp;Tyr247_Gln251delinsThrGluVal;Glu254_Ile256delinsProArgLys;Leu258_Asp267delinsPheProTyrArgArgProProCysThrHis;Leu269delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355240"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 323,
          "referenceAllele": "T",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530076.5:c.64del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434007.1:p.Ser22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000434007.1:p.[Ser22_Gly26delinsArgSerGlyLeuAsp;Tyr28_Gln32delinsThrGluVal;Glu35_Ile37delinsProArgLys;Leu39_Asp48delinsPheProTyrArgArgProProCysThrHis;Leu50delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355385"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 805,
          "referenceAllele": "T",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "ENST00000530704.5:c.*344del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431655.1:n.*344del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355912"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 953,
          "referenceAllele": "T",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.3:c.721del",
        "LRG_690t1:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Ser241ArgfsTer?",
        "hgvsWellDefined": "NP_000301.1:p.[Ser241_Gly245delinsArgSerGlyLeuAsp;Tyr247_Gln251delinsThrGluVal;Glu254_Ile256delinsProArgLys;Leu258_Asp267delinsPheProTyrArgArgProProCysThrHis;Leu269delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006372"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 644,
          "referenceAllele": "T",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.1:c.412del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Ser138ArgfsTer?",
        "hgvsWellDefined": "NP_001136076.1:p.[Ser138_Gly142delinsArgSerGlyLeuAsp;Tyr144_Gln148delinsThrGluVal;Glu151_Ile153delinsProArgLys;Leu155_Asp164delinsPheProTyrArgArgProProCysThrHis;Leu166delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012999"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 737,
          "referenceAllele": "T",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "XM_005271008.1:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271065.1:p.Ser241ArgfsTer7",
        "hgvsWellDefined": "XP_005271065.1:p.[Ser241_Asp243delinsArg;Leu245_Asn252delinsThr;Gly254_Glu262delinsTrp;Asp264_Glu270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066734"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 953,
          "referenceAllele": "T",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.1:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Ser241ArgfsTer7",
        "hgvsWellDefined": "NP_001350624.1:p.[Ser241_Asp243delinsArg;Leu245_Asn252delinsThr;Gly254_Glu262delinsTrp;Asp264_Glu270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523489"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 735,
          "referenceAllele": "T",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_000310.4:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000301.1:p.Ser241ArgfsTer?",
        "hgvsWellDefined": "NP_000301.1:p.[Ser241_Gly245delinsArgSerGlyLeuAsp;Tyr247_Gln251delinsThrGluVal;Glu254_Ile256delinsProArgLys;Leu258_Asp267delinsPheProTyrArgArgProProCysThrHis;Leu269delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642050.2:c.721del"
          },
          "RefSeq": {
            "hgvs": "NM_000310.4:c.721del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493153.1:p.Ser241ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000301.1:p.Ser241ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001142604.2:c.412del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136076.1:p.Ser138ArgfsTer?",
        "hgvsWellDefined": "NP_001136076.1:p.[Ser138_Gly142delinsArgSerGlyLeuAsp;Tyr144_Gln148delinsThrGluVal;Glu151_Ile153delinsProArgLys;Leu155_Asp164delinsPheProTyrArgArgProProCysThrHis;Leu166delinsThrAlaTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677588"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 735,
          "referenceAllele": "T",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NM_001363695.2:c.721del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350624.1:p.Ser241ArgfsTer7",
        "hgvsWellDefined": "NP_001350624.1:p.[Ser241_Asp243delinsArg;Leu245_Asn252delinsThr;Gly254_Glu262delinsTrp;Asp264_Glu270del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690744"
    }
  ],
  "type": "nucleotide"
}