{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1494903", "communityStandardTitle": [ "NM_001243133.2(NLRP3):c.606G>A (p.Lys202=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=746377[alleleid]", "alleleId": 746377, "preferredName": "NM_001243133.2(NLRP3):c.606G>A (p.Lys202=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/745343", "RCV": [ "RCV000921863", "RCV002264096" ], "variationId": 745343 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-247587357-G-A", "id": "1-247587357-G-A", "variant": "1:247587357 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.247587357G>A?assembly=hg19", "id": "chr1:g.247587357G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.247424055G>A?assembly=hg38", "id": "chr1:g.247424055G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/146606931", "rs": 146606931 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-247587357-G-A?dataset=gnomad_r2_1", "id": "1-247587357-G-A", "variant": "1:247587357 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-247424055-G-A?dataset=gnomad_r3", "id": "1-247424055-G-A", "variant": "1:247424055 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-247424055-G-A?dataset=gnomad_r4", "id": "1-247424055-G-A", "variant": "1:247424055 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 247424055, "referenceAllele": "G", "start": 247424054 } ], "hgvs": [ "NC_000001.11:g.247424055G>A", "CM000663.2:g.247424055G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 247587357, "referenceAllele": "G", "start": 247587356 } ], "hgvs": [ "NC_000001.10:g.247587357G>A", "CM000663.1:g.247587357G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 245653980, "referenceAllele": "G", "start": 245653979 } ], "hgvs": [ "NC_000001.9:g.245653980G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 12883, "referenceAllele": "G", "start": 12882 } ], "hgvs": [ "NG_007509.2:g.12883G>A", "LRG_197:g.12883G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000629" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "G", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000697350.1:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000513275.1:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS908721" }, { "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000336119.8:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000337383.4:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747550", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336119.8:c.606G>A" }, "RefSeq": { "hgvs": "NM_001243133.2:c.606G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337383.4:p.Lys202=" }, "RefSeq": { "hgvs": "NP_001230062.1:p.Lys202=" } } } }, { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000348069.7:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000294752.4:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748355" }, { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366496.7:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000355452.3:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749794" }, { "coordinates": [ { "allele": "A", "end": 1376, "referenceAllele": "G", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391827.3:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000375703.3:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS752934" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391828.8:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000375704.4:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS752935" }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000474792.2:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000493937.2:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS757129" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "G", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000642259.1:c.471G>A" ], "proteinEffect": { "hgvs": "ENSP00000494332.1:p.Lys157=" }, "referenceSequence": "http://reg.genome.network/refseq/RS766644" }, { "coordinates": [ { "allele": "A", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000643234.2:c.606G>A" ], "proteinEffect": { "hgvs": "ENSP00000493674.2:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767166" }, { "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000336119.7:c.612G>A" ], "proteinEffect": { "hgvs": "ENSP00000337383.3:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS260252" }, { "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000348069.6:c.612G>A" ], "proteinEffect": { "hgvs": "ENSP00000294752.3:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS262434" }, { "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "G", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366496.6:c.612G>A" ], "proteinEffect": { "hgvs": "ENSP00000355452.2:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265853" }, { "coordinates": [ { "allele": "A", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000366497.6:c.612G>A" ], "proteinEffect": { "hgvs": "ENSP00000355453.2:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS265854" }, { "coordinates": [ { "allele": "A", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391827.2:c.612G>A" ], "proteinEffect": { "hgvs": "ENSP00000375703.2:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS274779" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000391828.7:c.612G>A" ], "proteinEffect": { "hgvs": "ENSP00000375704.3:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS274780" }, { "coordinates": [ { "allele": "A", "end": 787, "referenceAllele": "G", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "ENST00000474792.1:n.787G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316220" }, { "coordinates": [ { "allele": "A", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001079821.2:c.612G>A" ], "proteinEffect": { "hgvs": "NP_001073289.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010102" }, { "coordinates": [ { "allele": "A", "end": 1392, "referenceAllele": "G", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127461.2:c.612G>A" ], "proteinEffect": { "hgvs": "NP_001120933.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011621" }, { "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127462.2:c.612G>A" ], "proteinEffect": { "hgvs": "NP_001120934.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011622" }, { "@id": "http://reg.genome.network/allele/PA2826315800", "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001243133.1:c.606G>A" ], "proteinEffect": { "hgvs": "NP_001230062.1:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS018417" }, { "@id": "http://reg.genome.network/allele/PA2829578139", "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_004895.4:c.612G>A", "LRG_197t1:c.612G>A" ], "proteinEffect": { "hgvs": "NP_004886.3:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS030035" }, { "coordinates": [ { "allele": "A", "end": 1358, "referenceAllele": "G", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_183395.2:c.612G>A" ], "proteinEffect": { "hgvs": "NP_899632.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS044275" }, { "coordinates": [ { "allele": "A", "end": 1547, "referenceAllele": "G", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_005273036.2:c.612G>A" ], "proteinEffect": { "hgvs": "XP_005273093.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067427" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_005273037.2:c.612G>A" ], "proteinEffect": { "hgvs": "XP_005273094.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067428" }, { "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544048.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542350.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110961" }, { "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544049.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542351.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110962" }, { "coordinates": [ { "allele": "A", "end": 1991, "referenceAllele": "G", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544050.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542352.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110963" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "G", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544051.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542353.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110964" }, { "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544052.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542354.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110965" }, { "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544053.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542355.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110966" }, { "coordinates": [ { "allele": "A", "end": 1460, "referenceAllele": "G", "start": 1459 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544054.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542356.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110967" }, { "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544055.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542357.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110968" }, { "coordinates": [ { "allele": "A", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_011544048.2:c.612G>A" ], "proteinEffect": { "hgvs": "XP_011542350.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS555487" }, { "coordinates": [ { "allele": "A", "end": 974, "referenceAllele": "G", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000181.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_016855670.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS556591" }, { "coordinates": [ { "allele": "A", "end": 919, "referenceAllele": "G", "start": 918 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000182.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_016855671.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS556592" }, { "coordinates": [ { "allele": "A", "end": 1385, "referenceAllele": "G", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000183.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_016855672.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS556593" }, { "coordinates": [ { "allele": "A", "end": 1385, "referenceAllele": "G", "start": 1384 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_017000184.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_016855673.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS556594" }, { "coordinates": [ { "allele": "A", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_024452862.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_024308630.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS586250" }, { "coordinates": [ { "allele": "A", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "XM_024452874.1:c.612G>A" ], "proteinEffect": { "hgvs": "XP_024308642.1:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS586262" }, { "@id": "http://reg.genome.network/allele/PA2825448899", "coordinates": [ { "allele": "A", "end": 733, "referenceAllele": "G", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001079821.3:c.606G>A" ], "proteinEffect": { "hgvs": "NP_001073289.2:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676225" }, { "@id": "http://reg.genome.network/allele/PA2825608157", "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127461.3:c.606G>A" ], "proteinEffect": { "hgvs": "NP_001120933.2:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676895" }, { "@id": "http://reg.genome.network/allele/PA2825609077", "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001127462.3:c.606G>A" ], "proteinEffect": { "hgvs": "NP_001120934.2:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676896" }, { "@id": "http://reg.genome.network/allele/PA2826315800", "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_001243133.2:c.606G>A" ], "proteinEffect": { "hgvs": "NP_001230062.1:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS680181", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000336119.8:c.606G>A" }, "RefSeq": { "hgvs": "NM_001243133.2:c.606G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000337383.4:p.Lys202=" }, "RefSeq": { "hgvs": "NP_001230062.1:p.Lys202=" } } } }, { "@id": "http://reg.genome.network/allele/PA2829578139", "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_004895.5:c.612G>A" ], "proteinEffect": { "hgvs": "NP_004886.3:p.Lys204=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696268" }, { "@id": "http://reg.genome.network/allele/PA2830417539", "coordinates": [ { "allele": "A", "end": 1375, "referenceAllele": "G", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN016400", "geneNCBI_id": 114548, "geneSymbol": "NLRP3", "hgvs": [ "NM_183395.3:c.606G>A" ], "proteinEffect": { "hgvs": "NP_899632.2:p.Lys202=" }, "referenceSequence": "http://reg.genome.network/refseq/RS701178" } ], "type": "nucleotide" }