{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2579803168", "communityStandardTitle": [ "NM_000071.3(CBS):c.959_960delinsCT (p.Val320Ala)" ], "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "AG", "end": 43062391, "referenceAllele": "CA", "start": 43062389 } ], "hgvs": [ "NC_000021.9:g.43062390_43062391delinsAG", "CM000683.2:g.43062390_43062391delinsAG" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "coordinates": [ { "allele": "CT", "end": 18541, "referenceAllele": "TG", "start": 18539 } ], "hgvs": [ "NG_008938.1:g.18540_18541delinsCT", "LRG_777:g.18540_18541delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS001316" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CT", "end": 1110, "referenceAllele": "TG", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.8:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000381231.4:p.Val320Ala", "hgvsWellDefined": "ENSP00000381231.4:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS753730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.959_960delinsCT" }, "RefSeq": { "hgvs": "NM_000071.3:c.959_960delinsCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Val320Ala" }, "RefSeq": { "hgvs": "NP_000062.1:p.Val320Ala" } } } }, { "coordinates": [ { "allele": "CT", "end": 1198, "referenceAllele": "TG", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000352178.9:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000344460.5:p.Val320Ala", "hgvsWellDefined": "ENSP00000344460.5:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS262839" }, { "coordinates": [ { "allele": "CT", "end": 1182, "referenceAllele": "TG", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000359624.7:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000352643.3:p.Val320Ala", "hgvsWellDefined": "ENSP00000352643.3:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS264850" }, { "coordinates": [ { "allele": "CT", "end": 1068, "referenceAllele": "TG", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398158.5:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000381225.1:p.Val320Ala", "hgvsWellDefined": "ENSP00000381225.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS278160" }, { "coordinates": [ { "allele": "CT", "end": 1220, "referenceAllele": "TG", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.7:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "ENSP00000381231.3:p.Val320Ala", "hgvsWellDefined": "ENSP00000381231.3:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS278163" }, { "coordinates": [ { "allele": "CT", "end": 1271, "referenceAllele": "TG", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000461686.5:n.1270_1271delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS306139" }, { "coordinates": [ { "allele": "CT", "end": 302, "referenceAllele": "TG", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000486098.1:n.301_302delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS324985" }, { "coordinates": [ { "allele": "CT", "end": 460, "referenceAllele": "TG", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000496485.1:n.459_460delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS332938" }, { "@id": "http://reg.genome.network/allele/PA096819", "coordinates": [ { "allele": "CT", "end": 1205, "referenceAllele": "TG", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.2:c.959_960delinsCT", "LRG_777t1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Val320Ala", "hgvsWellDefined": "NP_000062.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS006135" }, { "@id": "http://reg.genome.network/allele/PA2826132947", "coordinates": [ { "allele": "CT", "end": 1182, "referenceAllele": "TG", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val320Ala", "hgvsWellDefined": "NP_001171479.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS015804" }, { "@id": "http://reg.genome.network/allele/PA2826133623", "coordinates": [ { "allele": "CT", "end": 1182, "referenceAllele": "TG", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val320Ala", "hgvsWellDefined": "NP_001171480.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS015805" }, { "coordinates": [ { "allele": "CT", "end": 1327, "referenceAllele": "TG", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529773.1:c.1010_1011delinsCT" ], "proteinEffect": { "hgvs": "XP_011528075.1:p.Val337Ala", "hgvsWellDefined": "XP_011528075.1:p.Val337Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096838" }, { "coordinates": [ { "allele": "CT", "end": 1327, "referenceAllele": "TG", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.1:c.1010_1011delinsCT" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Val337Ala", "hgvsWellDefined": "XP_011528076.1:p.Val337Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096839" }, { "coordinates": [ { "allele": "CT", "end": 1325, "referenceAllele": "TG", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529775.1:c.1010_1011delinsCT" ], "proteinEffect": { "hgvs": "XP_011528077.1:p.Val337Ala", "hgvsWellDefined": "XP_011528077.1:p.Val337Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096840" }, { "coordinates": [ { "allele": "CT", "end": 1325, "referenceAllele": "TG", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529776.1:c.1010_1011delinsCT" ], "proteinEffect": { "hgvs": "XP_011528078.1:p.Val337Ala", "hgvsWellDefined": "XP_011528078.1:p.Val337Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096841" }, { "coordinates": [ { "allele": "CT", "end": 1148, "referenceAllele": "TG", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Val320Ala", "hgvsWellDefined": "XP_011528079.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096842" }, { "coordinates": [ { "allele": "CT", "end": 1207, "referenceAllele": "TG", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529778.1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "XP_011528080.1:p.Val320Ala", "hgvsWellDefined": "XP_011528080.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096843" }, { "coordinates": [ { "allele": "CT", "end": 1201, "referenceAllele": "TG", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529779.1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "XP_011528081.1:p.Val320Ala", "hgvsWellDefined": "XP_011528081.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096844" }, { "coordinates": [ { "allele": "CT", "end": 1213, "referenceAllele": "TG", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529781.1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "XP_011528083.1:p.Val320Ala", "hgvsWellDefined": "XP_011528083.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096845" }, { "coordinates": [ { "allele": "CT", "end": 1611, "referenceAllele": "TG", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529782.1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "XP_011528084.1:p.Val320Ala", "hgvsWellDefined": "XP_011528084.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096846" }, { "coordinates": [ { "allele": "CT", "end": 1238, "referenceAllele": "TG", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.1:c.644_645delinsCT" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Val215Ala", "hgvsWellDefined": "XP_011528085.1:p.Val215Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096847" }, { "coordinates": [ { "allele": "CT", "end": 1238, "referenceAllele": "TG", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529784.1:c.644_645delinsCT" ], "proteinEffect": { "hgvs": "XP_011528086.1:p.Val215Ala", "hgvsWellDefined": "XP_011528086.1:p.Val215Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096848" }, { "@id": "http://reg.genome.network/allele/PA2826132947", "coordinates": [ { "allele": "CT", "end": 1212, "referenceAllele": "TG", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.2:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val320Ala", "hgvsWellDefined": "NP_001171479.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511745" }, { "@id": "http://reg.genome.network/allele/PA2826133623", "coordinates": [ { "allele": "CT", "end": 1212, "referenceAllele": "TG", "start": 1210 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.2:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val320Ala", "hgvsWellDefined": "NP_001171480.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511746" }, { "@id": "http://reg.genome.network/allele/PA916024419", "coordinates": [ { "allele": "CT", "end": 1206, "referenceAllele": "TG", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.1:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Val320Ala", "hgvsWellDefined": "NP_001307227.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS513529" }, { "@id": "http://reg.genome.network/allele/PA2827070463", "coordinates": [ { "allele": "CT", "end": 1271, "referenceAllele": "TG", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001321072.1:c.644_645delinsCT" ], "proteinEffect": { "hgvs": "NP_001308001.1:p.Val215Ala", "hgvsWellDefined": "NP_001308001.1:p.Val215Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS514014" }, { "coordinates": [ { "allele": "CT", "end": 1331, "referenceAllele": "TG", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.2:c.1010_1011delinsCT" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Val337Ala", "hgvsWellDefined": "XP_011528076.1:p.Val337Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549665" }, { "coordinates": [ { "allele": "CT", "end": 1110, "referenceAllele": "TG", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.2:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Val320Ala", "hgvsWellDefined": "XP_011528079.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549666" }, { "coordinates": [ { "allele": "CT", "end": 1243, "referenceAllele": "TG", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.2:c.644_645delinsCT" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Val215Ala", "hgvsWellDefined": "XP_011528085.1:p.Val215Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549667" }, { "coordinates": [ { "allele": "CT", "end": 1110, "referenceAllele": "TG", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_017028491.2:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "XP_016883980.1:p.Val320Ala", "hgvsWellDefined": "XP_016883980.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS578228" }, { "coordinates": [ { "allele": "CT", "end": 1894, "referenceAllele": "TG", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452136.1:c.1010_1011delinsCT" ], "proteinEffect": { "hgvs": "XP_024307904.1:p.Val337Ala", "hgvsWellDefined": "XP_024307904.1:p.Val337Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585638" }, { "coordinates": [ { "allele": "CT", "end": 1894, "referenceAllele": "TG", "start": 1892 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452137.1:c.1010_1011delinsCT" ], "proteinEffect": { "hgvs": "XP_024307905.1:p.Val337Ala", "hgvsWellDefined": "XP_024307905.1:p.Val337Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585639" }, { "coordinates": [ { "allele": "CT", "end": 1938, "referenceAllele": "TG", "start": 1936 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452138.1:c.644_645delinsCT" ], "proteinEffect": { "hgvs": "XP_024307906.1:p.Val215Ala", "hgvsWellDefined": "XP_024307906.1:p.Val215Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585640" }, { "coordinates": [ { "allele": "CT", "end": 1932, "referenceAllele": "TG", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452139.1:c.644_645delinsCT" ], "proteinEffect": { "hgvs": "XP_024307907.1:p.Val215Ala", "hgvsWellDefined": "XP_024307907.1:p.Val215Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585641" }, { "coordinates": [ { "allele": "CT", "end": 1835, "referenceAllele": "TG", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452140.1:c.644_645delinsCT" ], "proteinEffect": { "hgvs": "XP_024307908.1:p.Val215Ala", "hgvsWellDefined": "XP_024307908.1:p.Val215Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585642" }, { "coordinates": [ { "allele": "CT", "end": 1331, "referenceAllele": "TG", "start": 1329 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754915.1:n.1330_1331delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS600857" }, { "coordinates": [ { "allele": "CT", "end": 1110, "referenceAllele": "TG", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754916.2:n.1109_1110delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS600858" }, { "coordinates": [ { "allele": "CT", "end": 1110, "referenceAllele": "TG", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754917.2:n.1109_1110delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS600859" }, { "coordinates": [ { "allele": "CT", "end": 1931, "referenceAllele": "TG", "start": 1929 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_002958634.1:n.1930_1931delinsCT" ], "referenceSequence": "http://reg.genome.network/refseq/RS604759" }, { "@id": "http://reg.genome.network/allele/PA096819", "coordinates": [ { "allele": "CT", "end": 1110, "referenceAllele": "TG", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.3:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Val320Ala", "hgvsWellDefined": "NP_000062.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.959_960delinsCT" }, "RefSeq": { "hgvs": "NM_000071.3:c.959_960delinsCT" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Val320Ala" }, "RefSeq": { "hgvs": "NP_000062.1:p.Val320Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2826133623", "coordinates": [ { "allele": "CT", "end": 1197, "referenceAllele": "TG", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val320Ala", "hgvsWellDefined": "NP_001171480.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826132947", "coordinates": [ { "allele": "CT", "end": 1197, "referenceAllele": "TG", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val320Ala", "hgvsWellDefined": "NP_001171479.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA916024419", "coordinates": [ { "allele": "CT", "end": 1218, "referenceAllele": "TG", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.959_960delinsCT" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Val320Ala", "hgvsWellDefined": "NP_001307227.1:p.Val320Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }