{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1943008757", "communityStandardTitle": [ "NM_000375.3(UROS):c.311C= (p.Ala104=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397515528", "rs": 397515528 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 125812222, "referenceAllele": "G", "start": 125812221 } ], "hgvs": [ "NC_000010.11:g.125812222G=", "CM000672.2:g.125812222G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 127500791, "referenceAllele": "G", "start": 127500790 } ], "hgvs": [ "NC_000010.10:g.127500791G=", "CM000672.1:g.127500791G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "G", "end": 127490781, "referenceAllele": "G", "start": 127490780 } ], "hgvs": [ "NC_000010.9:g.127490781G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "C", "end": 16047, "referenceAllele": "C", "start": 16046 } ], "hgvs": [ "NG_011557.1:g.16047C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001817" }, { "coordinates": [ { "allele": "C", "end": 16047, "referenceAllele": "C", "start": 16046 } ], "hgvs": [ "NG_011557.2:g.16047C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS616140" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "C", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000713579.1:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000518871.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914860" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000368797.10:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000357787.4:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750284", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368797.10:c.311C=" }, "RefSeq": { "hgvs": "NM_000375.3:c.311C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357787.4:p.Ala104=" }, "RefSeq": { "hgvs": "NP_000366.1:p.Ala104=" } } } }, { "coordinates": [ { "allele": "C", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000648119.1:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000497494.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS769800" }, { "coordinates": [ { "allele": "C", "end": 508, "referenceAllele": "C", "start": 507 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000648427.1:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000497909.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS769974" }, { "coordinates": [ { "allele": "C", "end": 240, "referenceAllele": "C", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000649275.1:c.240C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS770446" }, { "coordinates": [ { "allele": "C", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000649450.1:n.348C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS770550" }, { "coordinates": [ { "allele": "C", "end": 510, "referenceAllele": "C", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000649536.1:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000497817.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS770594" }, { "coordinates": [ { "allele": "C", "end": 94, "referenceAllele": "C", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000650185.1:c.94C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS770985" }, { "coordinates": [ { "allele": "C", "end": 116, "referenceAllele": "C", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000650524.1:c.116C=" ], "proteinEffect": { "hgvs": "ENSP00000498108.1:p.Ala39=" }, "referenceSequence": "http://reg.genome.network/refseq/RS771164" }, { "coordinates": [ { "allele": "C", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000650587.1:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000497366.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS771195" }, { "coordinates": [ { "allele": "C", "end": 398, "referenceAllele": "C", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000368774.1:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000357763.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS267171" }, { "coordinates": [ { "allele": "C", "end": 505, "referenceAllele": "C", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000368778.7:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000357767.3:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS267174" }, { "coordinates": [ { "allele": "C", "end": 444, "referenceAllele": "C", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000368786.5:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000357775.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS267179" }, { "coordinates": [ { "allele": "C", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000368797.8:c.311C=" ], "proteinEffect": { "hgvs": "ENSP00000357787.4:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS267183" }, { "coordinates": [ { "allele": "C", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "ENST00000420761.5:c.227C=" ], "proteinEffect": { "hgvs": "ENSP00000414833.1:p.Ala76=" }, "referenceSequence": "http://reg.genome.network/refseq/RS286474" }, { "@id": "http://reg.genome.network/allele/PA3076776726", "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_000375.2:c.311C=" ], "proteinEffect": { "hgvs": "NP_000366.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006437" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_005270137.2:c.311C=" ], "proteinEffect": { "hgvs": "XP_005270194.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066416" }, { "coordinates": [ { "allele": "C", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_005270138.2:c.311C=" ], "proteinEffect": { "hgvs": "XP_005270195.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066417" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_005270139.2:c.311C=" ], "proteinEffect": { "hgvs": "XP_005270196.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066418" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_005270140.3:c.311C=" ], "proteinEffect": { "hgvs": "XP_005270197.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066419" }, { "coordinates": [ { "allele": "C", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_005270141.1:c.311C=" ], "proteinEffect": { "hgvs": "XP_005270198.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066420" }, { "coordinates": [ { "allele": "C", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_006717960.2:c.311C=" ], "proteinEffect": { "hgvs": "XP_006718023.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072405" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_011540126.1:c.311C=" ], "proteinEffect": { "hgvs": "XP_011538428.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107076" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_011540127.1:c.311C=" ], "proteinEffect": { "hgvs": "XP_011538429.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107077" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_246103.2:n.419C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS117110" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_945809.1:n.419C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS139441" }, { "coordinates": [ { "allele": "C", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_945810.1:n.419C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS139442" }, { "@id": "http://reg.genome.network/allele/PA3076776726", "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_000375.3:c.311C=" ], "proteinEffect": { "hgvs": "NP_000366.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS510784", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000368797.10:c.311C=" }, "RefSeq": { "hgvs": "NM_000375.3:c.311C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000357787.4:p.Ala104=" }, "RefSeq": { "hgvs": "NP_000366.1:p.Ala104=" } } } }, { "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_001324036.1:c.311C=" ], "proteinEffect": { "hgvs": "NP_001310965.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515675" }, { "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_001324037.1:c.311C=" ], "proteinEffect": { "hgvs": "NP_001310966.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515676" }, { "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_001324038.1:c.311C=" ], "proteinEffect": { "hgvs": "NP_001310967.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515677" }, { "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_001324039.1:c.311C=" ], "proteinEffect": { "hgvs": "NP_001310968.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS515678" }, { "coordinates": [ { "allele": "C", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NR_136675.1:n.396C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS528958" }, { "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NR_136676.1:n.577C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS528959" }, { "coordinates": [ { "allele": "C", "end": 577, "referenceAllele": "C", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NR_136677.1:n.577C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS528960" }, { "coordinates": [ { "allele": "C", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NR_136678.1:n.307C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS528961" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_005270140.5:c.311C=" ], "proteinEffect": { "hgvs": "XP_005270197.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS536893" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_011540127.2:c.311C=" ], "proteinEffect": { "hgvs": "XP_011538429.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS553914" }, { "coordinates": [ { "allele": "C", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_017016611.2:c.311C=" ], "proteinEffect": { "hgvs": "XP_016872100.2:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569000" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_017016612.2:c.311C=" ], "proteinEffect": { "hgvs": "XP_016872101.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS569001" }, { "coordinates": [ { "allele": "C", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_024448154.1:c.311C=" ], "proteinEffect": { "hgvs": "XP_024303922.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS581734" }, { "coordinates": [ { "allele": "C", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XM_024448155.1:c.311C=" ], "proteinEffect": { "hgvs": "XP_024303923.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS581735" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_001747196.2:n.434C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595386" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_001747197.2:n.434C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595387" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_002957009.1:n.434C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS603146" }, { "coordinates": [ { "allele": "C", "end": 375, "referenceAllele": "C", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_002957010.1:n.375C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS603147" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_246103.3:n.434C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS606217" }, { "coordinates": [ { "allele": "C", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "XR_945810.2:n.434C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS614160" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_001324036.2:c.311C=" ], "proteinEffect": { "hgvs": "NP_001310965.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS686182" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_001324037.2:c.311C=" ], "proteinEffect": { "hgvs": "NP_001310966.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS686183" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_001324038.2:c.311C=" ], "proteinEffect": { "hgvs": "NP_001310967.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS686184" }, { "coordinates": [ { "allele": "C", "end": 386, "referenceAllele": "C", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NR_136675.2:n.386C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS703929" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NR_136676.2:n.567C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS703930" }, { "coordinates": [ { "allele": "C", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NR_136678.2:n.297C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS703931" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NM_001324039.2:c.311C=" ], "proteinEffect": { "hgvs": "NP_001310968.1:p.Ala104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS718395" }, { "coordinates": [ { "allele": "C", "end": 567, "referenceAllele": "C", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN012592", "geneNCBI_id": 7390, "geneSymbol": "UROS", "hgvs": [ "NR_136677.2:n.567C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS731017" } ], "type": "nucleotide" }