{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA012603", "communityStandardTitle": [ "NM_000038.6(APC):c.6873A>T (p.Gln2291His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49973[alleleid]", "alleleId": 49973, "preferredName": "NM_000038.6(APC):c.6873A>T (p.Gln2291His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41534", "RCV": [ "RCV000034419", "RCV000131637", "RCV000168325", "RCV000211931", "RCV001151804", "RCV001353490", "RCV003743553", "RCV003996165" ], "variationId": 41534 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-112178164-A-T", "id": "5-112178164-A-T", "variant": "5:112178164 A / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112178164A>T?assembly=hg19", "id": "chr5:g.112178164A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112842467A>T?assembly=hg38", "id": "chr5:g.112842467A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/148878262", "rs": 148878262 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112178164-A-T?dataset=gnomad_r2_1", "id": "5-112178164-A-T", "variant": "5:112178164 A / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112842467-A-T?dataset=gnomad_r3", "id": "5-112842467-A-T", "variant": "5:112842467 A / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-112842467-A-T?dataset=gnomad_r4", "id": "5-112842467-A-T", "variant": "5:112842467 A / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112842467, "referenceAllele": "A", "start": 112842466 } ], "hgvs": [ "NC_000005.10:g.112842467A>T", "CM000667.2:g.112842467A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112178164, "referenceAllele": "A", "start": 112178163 } ], "hgvs": [ "NC_000005.9:g.112178164A>T", "CM000667.1:g.112178164A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112206063, "referenceAllele": "A", "start": 112206062 } ], "hgvs": [ "NC_000005.8:g.112206063A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 154947, "referenceAllele": "A", "start": 154946 } ], "hgvs": [ "NG_008481.4:g.154947A>T", "LRG_130:g.154947A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6983, "referenceAllele": "A", "start": 6982 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.6927A>T" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Gln2309His", "hgvsWellDefined": "ENSP00000473355.2:p.Gln2309His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "T", "end": 7253, "referenceAllele": "A", "start": 7252 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*6879A>T" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*6879A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "T", "end": 7015, "referenceAllele": "A", "start": 7014 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.6819A>T" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Gln2273His", "hgvsWellDefined": "ENSP00000423224.2:p.Gln2273His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "T", "end": 7023, "referenceAllele": "A", "start": 7022 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.6873A>T" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Gln2291His", "hgvsWellDefined": "ENSP00000426541.2:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "T", "end": 7224, "referenceAllele": "A", "start": 7223 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.6873A>T" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Gln2291His", "hgvsWellDefined": "ENSP00000423828.3:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "T", "end": 6932, "referenceAllele": "A", "start": 6931 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.6873A>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Gln2291His", "hgvsWellDefined": "ENSP00000257430.4:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.6873A>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.6873A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Gln2291His" }, "RefSeq": { "hgvs": "NP_000029.2:p.Gln2291His" } } } }, { "coordinates": [ { "allele": "T", "end": 6929, "referenceAllele": "A", "start": 6928 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.6873A>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Gln2291His", "hgvsWellDefined": "ENSP00000257430.4:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "T", "end": 7030, "referenceAllele": "A", "start": 7029 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.6873A>T" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Gln2291His", "hgvsWellDefined": "ENSP00000427089.2:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "T", "end": 7118, "referenceAllele": "A", "start": 7117 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*6195A>T" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*6195A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 13495, "referenceAllele": "A", "start": 230, "startIntronDirection": "+", "startIntronOffset": 13494 } ], "hgvs": [ "ENST00000520401.1:c.230+13495A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA215535", "coordinates": [ { "allele": "T", "end": 6958, "referenceAllele": "A", "start": 6957 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.6873A>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Gln2291His", "hgvsWellDefined": "NP_000029.2:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA215536", "coordinates": [ { "allele": "T", "end": 7066, "referenceAllele": "A", "start": 7065 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.6873A>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Gln2291His", "hgvsWellDefined": "NP_001120982.1:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA215534", "coordinates": [ { "allele": "T", "end": 7032, "referenceAllele": "A", "start": 7031 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.6819A>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Gln2273His", "hgvsWellDefined": "NP_001120983.2:p.Gln2273His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827946831", "coordinates": [ { "allele": "T", "end": 7269, "referenceAllele": "A", "start": 7268 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.6873A>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Gln2291His", "hgvsWellDefined": "NP_001341824.1:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916041212", "coordinates": [ { "allele": "T", "end": 7012, "referenceAllele": "A", "start": 7011 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.6927A>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Gln2309His", "hgvsWellDefined": "NP_001341825.1:p.Gln2309His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827961520", "coordinates": [ { "allele": "T", "end": 7116, "referenceAllele": "A", "start": 7115 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.6903A>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Gln2301His", "hgvsWellDefined": "NP_001341826.1:p.Gln2301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827970659", "coordinates": [ { "allele": "T", "end": 6913, "referenceAllele": "A", "start": 6912 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.6798A>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Gln2266His", "hgvsWellDefined": "NP_001341827.1:p.Gln2266His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827979829", "coordinates": [ { "allele": "T", "end": 6874, "referenceAllele": "A", "start": 6873 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.6789A>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Gln2263His", "hgvsWellDefined": "NP_001341828.1:p.Gln2263His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827988908", "coordinates": [ { "allele": "T", "end": 6859, "referenceAllele": "A", "start": 6858 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.6750A>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Gln2250His", "hgvsWellDefined": "NP_001341829.1:p.Gln2250His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827997969", "coordinates": [ { "allele": "T", "end": 6805, "referenceAllele": "A", "start": 6804 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.6696A>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Gln2232His", "hgvsWellDefined": "NP_001341830.1:p.Gln2232His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828003792", "coordinates": [ { "allele": "T", "end": 6813, "referenceAllele": "A", "start": 6812 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.6600A>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Gln2200His", "hgvsWellDefined": "NP_001341831.1:p.Gln2200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828027275", "coordinates": [ { "allele": "T", "end": 6655, "referenceAllele": "A", "start": 6654 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.6570A>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Gln2190His", "hgvsWellDefined": "NP_001341832.1:p.Gln2190His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828046454", "coordinates": [ { "allele": "T", "end": 6610, "referenceAllele": "A", "start": 6609 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.6495A>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Gln2165His", "hgvsWellDefined": "NP_001341833.1:p.Gln2165His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828010918", "coordinates": [ { "allele": "T", "end": 6502, "referenceAllele": "A", "start": 6501 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.6393A>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Gln2131His", "hgvsWellDefined": "NP_001341834.1:p.Gln2131His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828027025", "coordinates": [ { "allele": "T", "end": 7144, "referenceAllele": "A", "start": 7143 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.6024A>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Gln2008His", "hgvsWellDefined": "NP_001341835.1:p.Gln2008His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA215535", "coordinates": [ { "allele": "T", "end": 6932, "referenceAllele": "A", "start": 6931 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.6873A>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Gln2291His", "hgvsWellDefined": "NP_000029.2:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.6873A>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.6873A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Gln2291His" }, "RefSeq": { "hgvs": "NP_000029.2:p.Gln2291His" } } } }, { "@id": "http://reg.genome.network/allele/PA215536", "coordinates": [ { "allele": "T", "end": 7040, "referenceAllele": "A", "start": 7039 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.6873A>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Gln2291His", "hgvsWellDefined": "NP_001120982.1:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA215534", "coordinates": [ { "allele": "T", "end": 7039, "referenceAllele": "A", "start": 7038 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.6819A>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Gln2273His", "hgvsWellDefined": "NP_001120983.2:p.Gln2273His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827946831", "coordinates": [ { "allele": "T", "end": 7276, "referenceAllele": "A", "start": 7275 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.6873A>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Gln2291His", "hgvsWellDefined": "NP_001341824.1:p.Gln2291His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041212", "coordinates": [ { "allele": "T", "end": 6986, "referenceAllele": "A", "start": 6985 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.6927A>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Gln2309His", "hgvsWellDefined": "NP_001341825.1:p.Gln2309His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827961520", "coordinates": [ { "allele": "T", "end": 7123, "referenceAllele": "A", "start": 7122 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.6903A>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Gln2301His", "hgvsWellDefined": "NP_001341826.1:p.Gln2301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827970659", "coordinates": [ { "allele": "T", "end": 6887, "referenceAllele": "A", "start": 6886 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.6798A>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Gln2266His", "hgvsWellDefined": "NP_001341827.1:p.Gln2266His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827979829", "coordinates": [ { "allele": "T", "end": 6848, "referenceAllele": "A", "start": 6847 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.6789A>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Gln2263His", "hgvsWellDefined": "NP_001341828.1:p.Gln2263His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827988908", "coordinates": [ { "allele": "T", "end": 6833, "referenceAllele": "A", "start": 6832 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.6750A>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Gln2250His", "hgvsWellDefined": "NP_001341829.1:p.Gln2250His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827997969", "coordinates": [ { "allele": "T", "end": 6779, "referenceAllele": "A", "start": 6778 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.6696A>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Gln2232His", "hgvsWellDefined": "NP_001341830.1:p.Gln2232His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828003792", "coordinates": [ { "allele": "T", "end": 6820, "referenceAllele": "A", "start": 6819 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.6600A>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Gln2200His", "hgvsWellDefined": "NP_001341831.1:p.Gln2200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828027275", "coordinates": [ { "allele": "T", "end": 6629, "referenceAllele": "A", "start": 6628 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.6570A>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Gln2190His", "hgvsWellDefined": "NP_001341832.1:p.Gln2190His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828046454", "coordinates": [ { "allele": "T", "end": 6584, "referenceAllele": "A", "start": 6583 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.6495A>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Gln2165His", "hgvsWellDefined": "NP_001341833.1:p.Gln2165His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828010918", "coordinates": [ { "allele": "T", "end": 6476, "referenceAllele": "A", "start": 6475 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.6393A>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Gln2131His", "hgvsWellDefined": "NP_001341834.1:p.Gln2131His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828027025", "coordinates": [ { "allele": "T", "end": 7118, "referenceAllele": "A", "start": 7117 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.6024A>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Gln2008His", "hgvsWellDefined": "NP_001341835.1:p.Gln2008His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }