{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7033643", "communityStandardTitle": [ "NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214895[alleleid]", "alleleId": 214895, "preferredName": "NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218264", "RCV": [ "RCV000236395" ], "variationId": 218264 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/13-100962159-C-T", "id": "13-100962159-C-T", "variant": "13:100962159 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.100962159C>T?assembly=hg19", "id": "chr13:g.100962159C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.100309905C>T?assembly=hg38", "id": "chr13:g.100309905C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/768703749", "rs": 768703749 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-100962159-C-T?dataset=gnomad_r2_1", "id": "13-100962159-C-T", "variant": "13:100962159 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-100309905-C-T?dataset=gnomad_r3", "id": "13-100309905-C-T", "variant": "13:100309905 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-100309905-C-T?dataset=gnomad_r4", "id": "13-100309905-C-T", "variant": "13:100309905 C / T" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 100309905, "referenceAllele": "C", "start": 100309904 } ], "hgvs": [ "NC_000013.11:g.100309905C>T", "CM000675.2:g.100309905C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "T", "end": 100962159, "referenceAllele": "C", "start": 100962158 } ], 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"ENSP00000365462.1:p.Arg476_Glu728delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751741", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376285.6:c.1426C>T" }, 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"referenceSequence": "http://reg.genome.network/refseq/RS769340" }, { "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376279.7:c.1426C>T" ], "proteinEffect": { "hgvs": "ENSP00000365456.3:p.Arg476Ter", "hgvsWellDefined": "ENSP00000365456.3:p.Arg476_Glu681delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271086" }, { "coordinates": [ { "allele": "T", "end": 1464, "referenceAllele": "C", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376285.5:c.1426C>T" ], "proteinEffect": { "hgvs": "ENSP00000365462.1:p.Arg476Ter", "hgvsWellDefined": "ENSP00000365462.1:p.Arg476_Glu728delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271088" }, { "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376286.8:c.1348C>T" ], "proteinEffect": { "hgvs": "ENSP00000365463.4:p.Arg450Ter", "hgvsWellDefined": "ENSP00000365463.4:p.Arg450_Glu702delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271089" }, { "coordinates": [ { "allele": "T", "end": 31, "endIntronDirection": "+", "endIntronOffset": 16651, "referenceAllele": "C", "start": 31, "startIntronDirection": "+", "startIntronOffset": 16650 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000424527.5:c.31+16651C>T" ], "proteinEffect": { "hgvs": "ENSP00000396050.1:n.31+16651C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS288307" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "C", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000443601.1:c.201C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS297421" }, { "@id": "http://reg.genome.network/allele/PA645434973", "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_000282.3:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_000273.2:p.Arg476Ter", "hgvsWellDefined": "NP_000273.2:p.Arg476_Glu728delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006343" }, { "@id": "http://reg.genome.network/allele/PA2825654087", "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001127692.2:c.1348C>T" ], "proteinEffect": { "hgvs": "NP_001121164.1:p.Arg450Ter", "hgvsWellDefined": "NP_001121164.1:p.Arg450_Glu702delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011675" }, { "@id": "http://reg.genome.network/allele/PA2826131776", "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001178004.1:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001171475.1:p.Arg476Ter", "hgvsWellDefined": "NP_001171475.1:p.Arg476_Glu681delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015800" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_005254059.2:c.1426C>T" ], "proteinEffect": { "hgvs": "XP_005254116.1:p.Arg476Ter", "hgvsWellDefined": "XP_005254116.1:p.Arg476_Asp640delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060486" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_011521093.1:c.1426C>T" ], "proteinEffect": { "hgvs": "XP_011519395.1:p.Arg476Ter", "hgvsWellDefined": "XP_011519395.1:p.Arg476_Gln699delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValGluHisGlyAlaGlnGlyLysPheSerIleValSerCysGlnGlnAsnHisProGlyGluSerPheTrpIleAspCysGluLysLeuGlyArgArgCysCysGlyLeuValAlaGlySerAlaGlyGlyLeuGlyLeuLysAlaLeuGlyLeuTyrLysLeuPheTrpIleCysAsnThrPheIleLeuAsnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS088257" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_931615.1:n.1527C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127719" }, { "@id": "http://reg.genome.network/allele/PA2827663489", "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352605.1:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001339534.1:p.Arg476Ter", "hgvsWellDefined": "NP_001339534.1:p.Arg476_Glu710delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521032" }, { "@id": "http://reg.genome.network/allele/PA2827664099", "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352606.1:c.1282C>T" ], "proteinEffect": { "hgvs": "NP_001339535.1:p.Arg428Ter", "hgvsWellDefined": "NP_001339535.1:p.Arg428_Glu680delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521033" }, { "@id": "http://reg.genome.network/allele/PA2827664761", "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352607.1:c.1348C>T" ], "proteinEffect": { "hgvs": "NP_001339536.1:p.Arg450Ter", "hgvsWellDefined": "NP_001339536.1:p.Arg450_Glu655delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521034" }, { "@id": "http://reg.genome.network/allele/PA2827665305", "coordinates": [ { "allele": "T", "end": 1310, "referenceAllele": "C", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352608.1:c.1204C>T" ], "proteinEffect": { "hgvs": "NP_001339537.1:p.Arg402Ter", "hgvsWellDefined": "NP_001339537.1:p.Arg402_Glu654delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521035" }, { "@id": "http://reg.genome.network/allele/PA916035563", "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352609.1:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001339538.1:p.Arg476Ter", "hgvsWellDefined": "NP_001339538.1:p.Arg476_Asp640delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521036" }, { "@id": "http://reg.genome.network/allele/PA2827666003", "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352610.1:c.481C>T" ], "proteinEffect": { "hgvs": "NP_001339539.1:p.Arg161Ter", "hgvsWellDefined": "NP_001339539.1:p.Arg161_Glu413delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521037" }, { "@id": "http://reg.genome.network/allele/PA2827666340", "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352611.1:c.481C>T" ], "proteinEffect": { "hgvs": "NP_001339540.1:p.Arg161Ter", "hgvsWellDefined": "NP_001339540.1:p.Arg161_Glu395delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521038" }, { "@id": "http://reg.genome.network/allele/PA2827666621", "coordinates": [ { "allele": "T", "end": 1309, "referenceAllele": "C", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352612.1:c.337C>T" ], "proteinEffect": { "hgvs": "NP_001339541.1:p.Arg113Ter", "hgvsWellDefined": "NP_001339541.1:p.Arg113_Glu365delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521039" }, { "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148027.1:n.1616C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531000" }, { "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148028.1:n.1616C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531001" }, { "coordinates": [ { "allele": "T", "end": 1538, "referenceAllele": "C", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148029.1:n.1538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531002" }, { "coordinates": [ { "allele": "T", "end": 1616, "referenceAllele": "C", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.1:n.1616C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531003" }, { "coordinates": [ { "allele": "T", "end": 1532, "referenceAllele": "C", "start": 1531 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.1:n.1532C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531004" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020605.1:c.1426C>T" ], "proteinEffect": { "hgvs": "XP_016876094.1:p.Arg476Ter", "hgvsWellDefined": "XP_016876094.1:p.Arg476_Asn744delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572044" }, { "coordinates": [ { "allele": "T", "end": 1378, "referenceAllele": "C", "start": 1377 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020606.1:c.1348C>T" ], "proteinEffect": { "hgvs": "XP_016876095.1:p.Arg450Ter", "hgvsWellDefined": "XP_016876095.1:p.Arg450_Asn718delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572045" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020607.1:c.1327C>T" ], "proteinEffect": { "hgvs": "XP_016876096.1:p.Arg443Ter", "hgvsWellDefined": "XP_016876096.1:p.Arg443_Asn711delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572046" }, { "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020609.1:c.1327C>T" ], "proteinEffect": { "hgvs": "XP_016876098.1:p.Arg443Ter", "hgvsWellDefined": "XP_016876098.1:p.Arg443_Glu695delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572047" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020611.1:c.1426C>T" ], "proteinEffect": { "hgvs": "XP_016876100.1:p.Arg476Ter", "hgvsWellDefined": "XP_016876100.1:p.Arg476_Asp683delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerProTrpArgLysLeuLeuAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572048" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020612.1:c.1426C>T" ], "proteinEffect": { "hgvs": "XP_016876101.1:p.Arg476Ter", "hgvsWellDefined": "XP_016876101.1:p.Arg476_Asp681delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerValGlnGlyGluTyrLeuAsnGlnThrCysArgArgIleGluGlnIleTyrAlaGlyLysSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS572049" }, { "coordinates": [ 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"referenceSequence": "http://reg.genome.network/refseq/RS597333" }, { "coordinates": [ { "allele": "T", "end": 1166, "endIntronDirection": "-", "endIntronOffset": 20655, "referenceAllele": "C", "start": 1166, "startIntronDirection": "-", "startIntronOffset": 20656 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749577.1:n.1167-20656C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS597334" }, { "@id": "http://reg.genome.network/allele/PA645434973", "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_000282.4:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_000273.2:p.Arg476Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827666003", "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352610.2:c.481C>T" ], "proteinEffect": { "hgvs": "NP_001339539.1:p.Arg161Ter", "hgvsWellDefined": 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"NP_001339541.1:p.Arg113_Glu365delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689326" }, { "coordinates": [ { "allele": "T", "end": 1538, "referenceAllele": "C", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148027.2:n.1538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704674" }, { "coordinates": [ { "allele": "T", "end": 1538, "referenceAllele": "C", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148028.2:n.1538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704675" }, { "coordinates": [ { "allele": "T", "end": 1460, "referenceAllele": "C", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148029.2:n.1460C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704676" }, { "coordinates": [ { "allele": "T", "end": 1538, "referenceAllele": "C", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.2:n.1538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704677" }, { "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.2:n.1454C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704678" }, { "@id": "http://reg.genome.network/allele/PA2825654087", "coordinates": [ { "allele": "T", "end": 1376, "referenceAllele": "C", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001127692.3:c.1348C>T" ], "proteinEffect": { "hgvs": "NP_001121164.1:p.Arg450Ter", "hgvsWellDefined": "NP_001121164.1:p.Arg450_Glu702delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712226" }, { "@id": "http://reg.genome.network/allele/PA2826131776", "coordinates": [ { "allele": "T", "end": 1454, "referenceAllele": "C", "start": 1453 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001178004.2:c.1426C>T" ], "proteinEffect": { "hgvs": "NP_001171475.1:p.Arg476Ter", "hgvsWellDefined": "NP_001171475.1:p.Arg476_Glu681delinsGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713545" } ], "type": "nucleotide" }