{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5547585",
  "communityStandardTitle": [
    "NM_002778.4(PSAP):c.889G>T (p.Glu297Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1441526[alleleid]",
        "alleleId": 1441526,
        "preferredName": "NM_002778.4(PSAP):c.889G>T (p.Glu297Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1455040",
        "RCV": [
          "RCV001942173"
        ],
        "variationId": 1455040
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73581653-C-A",
        "id": "10-73581653-C-A",
        "variant": "10:73581653 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73581653C>A?assembly=hg19",
        "id": "chr10:g.73581653C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71821896C>A?assembly=hg38",
        "id": "chr10:g.71821896C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765607332",
        "rs": 765607332
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73581653-C-A?dataset=gnomad_r2_1",
        "id": "10-73581653-C-A",
        "variant": "10:73581653 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71821896-C-A?dataset=gnomad_r4",
        "id": "10-71821896-C-A",
        "variant": "10:71821896 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 71821896,
          "referenceAllele": "C",
          "start": 71821895
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71821896C>A",
        "CM000672.2:g.71821896C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73581653,
          "referenceAllele": "C",
          "start": 73581652
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73581653C>A",
        "CM000672.1:g.73581653C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 73251659,
          "referenceAllele": "C",
          "start": 73251658
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73251659C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34430,
          "referenceAllele": "G",
          "start": 34429
        }
      ],
      "hgvs": [
        "NG_009301.1:g.34430G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001557"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394936.8:c.889G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378394.3:p.Glu297Ter",
        "hgvsWellDefined": "ENSP00000378394.3:p.Glu297_Asn524delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.889G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.889G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:p.Glu297Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:p.Glu297Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394934.4:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378392.2:p.Glu300Ter",
        "hgvsWellDefined": "ENSP00000378392.2:p.Glu300_Asn527delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394936.7:c.889G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378394.3:p.Glu297Ter",
        "hgvsWellDefined": "ENSP00000378394.3:p.Glu297_Asn524delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "referenceAllele": "G",
          "start": 309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000493143.1:n.310G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 2112,
          "referenceAllele": "G",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000610929.3:c.271-2113G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480857.1:n.271-2113G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000633965.1:c.299G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573176647",
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.1:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:p.Glu300Ter",
        "hgvsWellDefined": "NP_001035930.1:p.Glu300_Asn527delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403675",
      "coordinates": [
        {
          "allele": "T",
          "end": 999,
          "referenceAllele": "G",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.1:c.895G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:p.Glu299Ter",
        "hgvsWellDefined": "NP_001035931.1:p.Glu299_Asn526delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829382139",
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.2:c.889G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:p.Glu297Ter",
        "hgvsWellDefined": "NP_002769.1:p.Glu297_Asn524delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573176647",
      "coordinates": [
        {
          "allele": "T",
          "end": 1052,
          "referenceAllele": "G",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.2:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:p.Glu300Ter",
        "hgvsWellDefined": "NP_001035930.1:p.Glu300_Asn527delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403675",
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "G",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.2:c.895G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:p.Glu299Ter",
        "hgvsWellDefined": "NP_001035931.1:p.Glu299_Asn526delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829382139",
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.3:c.889G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:p.Glu297Ter",
        "hgvsWellDefined": "NP_002769.1:p.Glu297_Asn524delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829382139",
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.4:c.889G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:p.Glu297Ter",
        "hgvsWellDefined": "NP_002769.1:p.Glu297_Asn524delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.889G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.889G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:p.Glu297Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:p.Glu297Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573176647",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.3:c.898G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:p.Glu300Ter",
        "hgvsWellDefined": "NP_001035930.1:p.Glu300_Asn527delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403675",
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.3:c.895G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:p.Glu299Ter",
        "hgvsWellDefined": "NP_001035931.1:p.Glu299_Asn526delinsLeuValGluProIleLysLysHisGluValProAlaLysSerAspValTyrCysGluValCysGluPheLeuValLysGluValThrLysLeuIleAspAsnAsnLysThrGluLysGluIleLeuAspAlaPheAspLysMetCysSerLysLeuProLysSerLeuSerGluGluCysGlnGluValValAspThrTyrGlySerSerIleLeuSerIleLeuLeuGluGluValSerProGluLeuValCysSerMetLeuHisLeuCysSerGlyThrArgLeuProAlaLeuThrValHisValThrGlnProLysAspGlyGlyPheCysGluValCysLysLysLeuValGlyTyrLeuAspArgAsnLeuGluLysAsnSerThrLysGlnGluIleLeuAlaAlaLeuGluLysGlyCysSerPheLeuProAspProTyrGlnLysGlnCysAspGlnPheValAlaGluTyrGluProValLeuIleGluIleLeuValGluValMetAspProSerPheValCysLeuLysIleGlyAlaCysProSerAlaHisLysProLeuLeuGlyThrGluLysCysIleTrpGlyProSerTyrTrpCysGlnAsnThrGluThrAlaAlaGlnCysAsnAlaValGluHisCysLysArgHisValTrpAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676025"
    }
  ],
  "type": "nucleotide"
}