{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351507136", "communityStandardTitle": [ "NM_002880.4(RAF1):c.1105C>A (p.His369Asn)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.12641193G>T?assembly=hg19", "id": "chr3:g.12641193G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.12599694G>T?assembly=hg38", "id": "chr3:g.12599694G>T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 12599694, "referenceAllele": "G", "start": 12599693 } ], "hgvs": [ "NC_000003.12:g.12599694G>T", "CM000665.2:g.12599694G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 12641193, "referenceAllele": "G", "start": 12641192 } ], "hgvs": [ "NC_000003.11:g.12641193G>T", "CM000665.1:g.12641193G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 12616193, "referenceAllele": "G", "start": 12616192 } ], "hgvs": [ "NC_000003.10:g.12616193G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 69486, "referenceAllele": "C", "start": 69485 } ], "hgvs": [ "NG_007467.1:g.69486C>A", "LRG_413:g.69486C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000592" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.6:c.*770C>A" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*770C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS824726" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.3:c.425C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS824839" }, { "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.6:n.696C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825161" }, { "coordinates": [ { "allele": "A", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.2:n.1482C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS825419" }, { "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000684903.1:c.*782C>A" ], "proteinEffect": { "hgvs": "ENSP00000508612.1:n.*782C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829785" }, { "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685348.1:c.*782C>A" ], "proteinEffect": { "hgvs": "ENSP00000510285.1:n.*782C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS830023" }, { "coordinates": [ { "allele": "A", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685437.1:c.1006C>A" ], "proteinEffect": { "hgvs": "ENSP00000508794.1:p.His336Asn", "hgvsWellDefined": "ENSP00000508794.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS830075" }, { "coordinates": [ { "allele": "A", "end": 2810, "referenceAllele": "C", "start": 2809 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685653.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000509968.1:p.His369Asn", "hgvsWellDefined": "ENSP00000509968.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS830186" }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000685738.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000510156.1:p.His369Asn", "hgvsWellDefined": "ENSP00000510156.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS830228" }, { "coordinates": [ { "allele": "A", "end": 2156, "referenceAllele": "C", "start": 2155 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686409.1:n.2156C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830557" }, { "coordinates": [ { "allele": "A", "end": 1468, "referenceAllele": "C", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686455.1:n.1468C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830585" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686479.1:n.1476C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830600" }, { "coordinates": [ { "allele": "A", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000686762.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000509767.1:p.His369Asn", "hgvsWellDefined": "ENSP00000509767.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS830729" }, { "coordinates": [ { "allele": "A", "end": 1341, "referenceAllele": "C", "start": 1340 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687257.1:n.1341C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831004" }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687326.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000509665.1:p.His369Asn", "hgvsWellDefined": "ENSP00000509665.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS831034" }, { "coordinates": [ { "allele": "A", "end": 297, "referenceAllele": "C", "start": 296 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687486.1:c.297C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831111" }, { "coordinates": [ { "allele": "A", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687505.1:n.1223C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831119" }, { "coordinates": [ { "allele": "A", "end": 1322, "endIntronDirection": "+", "endIntronOffset": 9, "referenceAllele": "C", "start": 1322, "startIntronDirection": "+", "startIntronOffset": 8 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687923.1:c.997+9C>A" ], "proteinEffect": { "hgvs": "ENSP00000510255.1:n.997+9C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831334" }, { "coordinates": [ { "allele": "A", "end": 1482, "referenceAllele": "C", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000687940.1:n.1482C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831344" }, { "coordinates": [ { "allele": "A", "end": 1701, "referenceAllele": "C", "start": 1700 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688269.1:n.1701C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831533" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "C", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688326.1:c.425C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831566" }, { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "C", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688444.1:n.1431C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831632" }, { "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688543.1:c.1006C>A" ], "proteinEffect": { "hgvs": "ENSP00000509612.1:p.His336Asn", "hgvsWellDefined": "ENSP00000509612.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS831682" }, { "coordinates": [ { "allele": "A", "end": 1196, "referenceAllele": "C", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688625.1:c.*683C>A" ], "proteinEffect": { "hgvs": "ENSP00000509522.1:n.*683C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831731" }, { "coordinates": [ { "allele": "A", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688803.1:n.1336C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831828" }, { "coordinates": [ { "allele": "A", "end": 91, "referenceAllele": "C", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000688914.1:n.91C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831888" }, { "coordinates": [ { "allele": "A", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689097.1:c.*782C>A" ], "proteinEffect": { "hgvs": "ENSP00000509756.1:n.*782C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS831988" }, { "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689389.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000510213.1:p.His369Asn", "hgvsWellDefined": "ENSP00000510213.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS832143" }, { "coordinates": [ { "allele": "A", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689418.1:c.*782C>A" ], "proteinEffect": { "hgvs": "ENSP00000509467.1:n.*782C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832158" }, { "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689481.1:c.*782C>A" ], "proteinEffect": { "hgvs": "ENSP00000510248.1:n.*782C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832193" }, { "coordinates": [ { "allele": "A", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689540.1:n.1255C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832229" }, { "coordinates": [ { "allele": "A", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689876.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000508535.1:p.His369Asn", "hgvsWellDefined": "ENSP00000508535.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS832419" }, { "coordinates": [ { "allele": "A", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000689914.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000509847.1:p.His369Asn", "hgvsWellDefined": "ENSP00000509847.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS832441" }, { "coordinates": [ { "allele": "A", "end": 1325, "referenceAllele": "C", "start": 1324 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690397.1:c.994C>A" ], "proteinEffect": { "hgvs": "ENSP00000508730.1:p.His332Asn", "hgvsWellDefined": "ENSP00000508730.1:p.His332Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS832679" }, { "coordinates": [ { "allele": "A", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690460.1:c.1093C>A" ], "proteinEffect": { "hgvs": "ENSP00000509106.1:p.His365Asn", "hgvsWellDefined": "ENSP00000509106.1:p.His365Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS832713" }, { "coordinates": [ { "allele": "A", "end": 1408, "referenceAllele": "C", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000690625.1:n.1408C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832797" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691268.1:c.532C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833133" }, { "coordinates": [ { "allele": "A", "end": 1481, "referenceAllele": "C", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691396.1:c.*898C>A" ], "proteinEffect": { "hgvs": "ENSP00000510712.1:n.*898C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833193" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "C", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691724.1:c.*62C>A" ], "proteinEffect": { "hgvs": "ENSP00000509255.1:n.*62C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833349" }, { "coordinates": [ { "allele": "A", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691779.1:c.*683C>A" ], "proteinEffect": { "hgvs": "ENSP00000508592.1:n.*683C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833377" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691899.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000508763.1:p.His369Asn", "hgvsWellDefined": "ENSP00000508763.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS833435" }, { "coordinates": [ { "allele": "A", "end": 1671, "referenceAllele": "C", "start": 1670 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692069.1:n.1671C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833529" }, { "coordinates": [ { "allele": "A", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692093.1:c.1006C>A" ], "proteinEffect": { "hgvs": "ENSP00000509669.1:p.His336Asn", "hgvsWellDefined": "ENSP00000509669.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS833541" }, { "coordinates": [ { "allele": "A", "end": 1929, "referenceAllele": "C", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692311.1:n.1929C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833653" }, { "coordinates": [ { "allele": "A", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692558.1:n.1470C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS833776" }, { "coordinates": [ { "allele": "A", "end": 1356, "referenceAllele": "C", "start": 1355 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692773.1:c.*842C>A" ], "proteinEffect": { "hgvs": "ENSP00000509055.1:n.*842C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833877" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692830.1:c.*850C>A" ], "proteinEffect": { "hgvs": "ENSP00000509461.1:n.*850C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833910" }, { "coordinates": [ { "allele": "A", "end": 1032, "referenceAllele": "C", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693069.1:c.1006C>A" ], "proteinEffect": { "hgvs": "ENSP00000510072.1:p.His336Asn", "hgvsWellDefined": "ENSP00000510072.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS834047" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693312.1:c.880C>A" ], "proteinEffect": { "hgvs": "ENSP00000508686.1:p.His294Asn", "hgvsWellDefined": "ENSP00000508686.1:p.His294Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS834179" }, { "coordinates": [ { "allele": "A", "end": 1414, "referenceAllele": "C", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693664.1:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000509614.1:p.His369Asn", "hgvsWellDefined": "ENSP00000509614.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS834363" }, { "coordinates": [ { "allele": "A", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693705.1:c.*782C>A" ], "proteinEffect": { "hgvs": "ENSP00000510697.1:n.*782C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834385" }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.9:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.His369Asn", "hgvsWellDefined": "ENSP00000251849.4:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS741499", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.1105C>A" }, "RefSeq": { "hgvs": "NM_002880.4:c.1105C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.His369Asn" }, "RefSeq": { "hgvs": "NP_002871.1:p.His369Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.7:c.1165C>A" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.His389Asn", "hgvsWellDefined": "ENSP00000401888.2:p.His389Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS755905" }, { "coordinates": [ { "allele": "A", "end": 1545, "referenceAllele": "C", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.8:c.1105C>A" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.His369Asn", "hgvsWellDefined": "ENSP00000251849.4:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS249768" }, { "coordinates": [ { "allele": "A", "end": 1331, "referenceAllele": "C", "start": 1330 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.5:c.*782C>A" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*782C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS287680" }, { "coordinates": [ { "allele": "A", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.2:c.742C>A" ], "proteinEffect": { "hgvs": "ENSP00000398591.2:p.His248Asn", "hgvsWellDefined": "ENSP00000398591.2:p.His248Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS292084" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.6:c.1165C>A" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.His389Asn", "hgvsWellDefined": "ENSP00000401888.2:p.His389Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS296866" }, { "coordinates": [ { "allele": "A", "end": 62, "referenceAllele": "C", "start": 61 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000460610.1:n.62C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS305307" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000465826.5:n.349C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309348" }, { "@id": "http://reg.genome.network/allele/PA3262099988", "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "C", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.3:c.1105C>A", "LRG_413t1:c.1105C>A" ], "proteinEffect": { "hgvs": "NP_002871.1:p.His369Asn", "hgvsWellDefined": "NP_002871.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS028166" }, { "coordinates": [ { "allele": "A", "end": 1248, "referenceAllele": "C", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265355.1:c.1105C>A" ], "proteinEffect": { "hgvs": "XP_005265412.1:p.His369Asn", "hgvsWellDefined": "XP_005265412.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS064593" }, { "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265357.1:c.1006C>A" ], "proteinEffect": { "hgvs": "XP_005265414.1:p.His336Asn", "hgvsWellDefined": "XP_005265414.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS064594" }, { "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "C", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265358.3:c.862C>A" ], "proteinEffect": { "hgvs": "XP_005265415.1:p.His288Asn", "hgvsWellDefined": "XP_005265415.1:p.His288Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS064595" }, { "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265359.3:c.763C>A" ], "proteinEffect": { "hgvs": "XP_005265416.1:p.His255Asn", "hgvsWellDefined": "XP_005265416.1:p.His255Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS064596" }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265360.1:c.1105C>A" ], "proteinEffect": { "hgvs": "XP_005265417.1:p.His369Asn", "hgvsWellDefined": "XP_005265417.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS064597" }, { "coordinates": [ { "allele": "A", "end": 1561, "referenceAllele": "C", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.1:c.1105C>A" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.His369Asn", "hgvsWellDefined": "XP_011532276.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS100992" }, { "coordinates": [ { "allele": "A", "end": 1448, "referenceAllele": "C", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533975.1:c.862C>A" ], "proteinEffect": { "hgvs": "XP_011532277.1:p.His288Asn", "hgvsWellDefined": "XP_011532277.1:p.His288Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS100993" }, { "coordinates": [ { "allele": "A", "end": 1580, "referenceAllele": "C", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.1:c.1165C>A" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.His389Asn", "hgvsWellDefined": "NP_001341618.1:p.His389Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522615" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.1:c.1105C>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.His369Asn", "hgvsWellDefined": "NP_001341619.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522616" }, { "coordinates": [ { "allele": "A", "end": 1500, "referenceAllele": "C", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.1:c.862C>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.His288Asn", "hgvsWellDefined": "NP_001341620.1:p.His288Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522617" }, { "coordinates": [ { "allele": "A", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.1:c.862C>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.His288Asn", "hgvsWellDefined": "NP_001341621.1:p.His288Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522618" }, { "coordinates": [ { "allele": "A", "end": 1421, "referenceAllele": "C", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.1:c.1006C>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.His336Asn", "hgvsWellDefined": "NP_001341622.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522619" }, { "coordinates": [ { "allele": "A", "end": 1467, "referenceAllele": "C", "start": 1466 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.1:c.922C>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.His308Asn", "hgvsWellDefined": "NP_001341623.1:p.His308Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522620" }, { "coordinates": [ { "allele": "A", "end": 1308, "referenceAllele": "C", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.1:c.763C>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.His255Asn", "hgvsWellDefined": "NP_001341624.1:p.His255Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522621" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "C", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.1:n.1520C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531389" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "C", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.1:n.1520C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531390" }, { "coordinates": [ { "allele": "A", "end": 1518, "referenceAllele": "C", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.1:n.1518C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531391" }, { "coordinates": [ { "allele": "A", "end": 1529, "referenceAllele": "C", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.3:c.1105C>A" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.His369Asn", "hgvsWellDefined": "XP_011532276.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS551450" }, { "coordinates": [ { "allele": "A", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_017006966.1:c.1006C>A" ], "proteinEffect": { "hgvs": "XP_016862455.1:p.His336Asn", "hgvsWellDefined": "XP_016862455.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS561850" }, { "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XR_001740227.1:n.1337C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590444" }, { "coordinates": [ { "allele": "A", "end": 1496, "referenceAllele": "C", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.3:c.1165C>A" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.His389Asn", "hgvsWellDefined": "NP_001341618.1:p.His389Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690283" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.2:c.1105C>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.His369Asn", "hgvsWellDefined": "NP_001341619.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690284" }, { "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "C", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.2:c.862C>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.His288Asn", "hgvsWellDefined": "NP_001341620.1:p.His288Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690285" }, { "coordinates": [ { "allele": "A", "end": 1323, "referenceAllele": "C", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.2:c.862C>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.His288Asn", "hgvsWellDefined": "NP_001341621.1:p.His288Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690286" }, { "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.2:c.1006C>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.His336Asn", "hgvsWellDefined": "NP_001341622.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690287" }, { "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "C", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.2:c.922C>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.His308Asn", "hgvsWellDefined": "NP_001341623.1:p.His308Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690288" }, { "coordinates": [ { "allele": "A", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.2:c.763C>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.His255Asn", "hgvsWellDefined": "NP_001341624.1:p.His255Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690289" }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.2:n.1436C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704891" }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.2:n.1436C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704892" }, { "coordinates": [ { "allele": "A", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.2:n.1434C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704893" }, { "coordinates": [ { "allele": "A", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.3:c.1105C>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.His369Asn", "hgvsWellDefined": "NP_001341619.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS720546" }, { "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "C", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.3:c.862C>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.His288Asn", "hgvsWellDefined": "NP_001341620.1:p.His288Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS720547" }, { "coordinates": [ { "allele": "A", "end": 1323, "referenceAllele": "C", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.3:c.862C>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.His288Asn", "hgvsWellDefined": "NP_001341621.1:p.His288Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS720548" }, { "coordinates": [ { "allele": "A", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.3:c.1006C>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.His336Asn", "hgvsWellDefined": "NP_001341622.1:p.His336Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS720549" }, { "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "C", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.3:c.922C>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.His308Asn", "hgvsWellDefined": "NP_001341623.1:p.His308Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS720550" }, { "coordinates": [ { "allele": "A", "end": 1224, "referenceAllele": "C", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.3:c.763C>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.His255Asn", "hgvsWellDefined": "NP_001341624.1:p.His255Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS720551" }, { "@id": "http://reg.genome.network/allele/PA3262099988", "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.4:c.1105C>A" ], "proteinEffect": { "hgvs": "NP_002871.1:p.His369Asn", "hgvsWellDefined": "NP_002871.1:p.His369Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS727324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.1105C>A" }, "RefSeq": { "hgvs": "NM_002880.4:c.1105C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.His369Asn" }, "RefSeq": { "hgvs": "NP_002871.1:p.His369Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.3:n.1436C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731498" }, { "coordinates": [ { "allele": "A", "end": 1436, "referenceAllele": "C", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.3:n.1436C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731499" }, { "coordinates": [ { "allele": "A", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.3:n.1434C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731500" } ], "type": "nucleotide" }