{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA410599956", "communityStandardTitle": [ "NM_000071.3(CBS):c.941T>C (p.Val314Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=966848[alleleid]", "alleleId": 966848, "preferredName": "NM_000071.3(CBS):c.941T>C (p.Val314Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/978771", "RCV": [ "RCV001257457" ], "variationId": 978771 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.43062966A>G?assembly=hg38", "id": "chr21:g.43062966A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1438933819", "rs": 1438933819 } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "G", "end": 43062966, "referenceAllele": "A", "start": 43062965 } ], "hgvs": [ "NC_000021.9:g.43062966A>G", "CM000683.2:g.43062966A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "coordinates": [ { "allele": "C", "end": 17965, "referenceAllele": "T", "start": 17964 } ], "hgvs": [ "NG_008938.1:g.17965T>C", "LRG_777:g.17965T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001316" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1091, "referenceAllele": "T", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.8:c.941T>C" ], "proteinEffect": { "hgvs": "ENSP00000381231.4:p.Val314Ala", "hgvsWellDefined": "ENSP00000381231.4:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS753730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.941T>C" }, "RefSeq": { "hgvs": "NM_000071.3:c.941T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Val314Ala" }, "RefSeq": { "hgvs": "NP_000062.1:p.Val314Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1179, "referenceAllele": "T", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000352178.9:c.941T>C" ], "proteinEffect": { "hgvs": "ENSP00000344460.5:p.Val314Ala", "hgvsWellDefined": "ENSP00000344460.5:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS262839" }, { "coordinates": [ { "allele": "C", "end": 1163, "referenceAllele": "T", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000359624.7:c.941T>C" ], "proteinEffect": { "hgvs": "ENSP00000352643.3:p.Val314Ala", "hgvsWellDefined": "ENSP00000352643.3:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS264850" }, { "coordinates": [ { "allele": "C", "end": 1049, "referenceAllele": "T", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398158.5:c.941T>C" ], "proteinEffect": { "hgvs": "ENSP00000381225.1:p.Val314Ala", "hgvsWellDefined": "ENSP00000381225.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS278160" }, { "coordinates": [ { "allele": "C", "end": 1201, "referenceAllele": "T", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.7:c.941T>C" ], "proteinEffect": { "hgvs": "ENSP00000381231.3:p.Val314Ala", "hgvsWellDefined": "ENSP00000381231.3:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS278163" }, { "coordinates": [ { "allele": "C", "end": 1252, "referenceAllele": "T", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000461686.5:n.1252T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS306139" }, { "coordinates": [ { "allele": "C", "end": 283, "referenceAllele": "T", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000486098.1:n.283T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS324985" }, { "coordinates": [ { "allele": "C", "end": 441, "referenceAllele": "T", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000496485.1:n.441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS332938" }, { "@id": "http://reg.genome.network/allele/PA2579798704", "coordinates": [ { "allele": "C", "end": 1186, "referenceAllele": "T", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.2:c.941T>C", "LRG_777t1:c.941T>C" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Val314Ala", "hgvsWellDefined": "NP_000062.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS006135" }, { "@id": "http://reg.genome.network/allele/PA2826132939", "coordinates": [ { "allele": "C", "end": 1163, "referenceAllele": "T", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.1:c.941T>C" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val314Ala", "hgvsWellDefined": "NP_001171479.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS015804" }, { "@id": "http://reg.genome.network/allele/PA2826133615", "coordinates": [ { "allele": "C", "end": 1163, "referenceAllele": "T", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.1:c.941T>C" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val314Ala", "hgvsWellDefined": "NP_001171480.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS015805" }, { "coordinates": [ { "allele": "C", "end": 1308, "referenceAllele": "T", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529773.1:c.992T>C" ], "proteinEffect": { "hgvs": "XP_011528075.1:p.Val331Ala", "hgvsWellDefined": "XP_011528075.1:p.Val331Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096838" }, { "coordinates": [ { "allele": "C", "end": 1308, "referenceAllele": "T", "start": 1307 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.1:c.992T>C" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Val331Ala", "hgvsWellDefined": "XP_011528076.1:p.Val331Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096839" }, { "coordinates": [ { "allele": "C", "end": 1306, "referenceAllele": "T", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529775.1:c.992T>C" ], "proteinEffect": { "hgvs": "XP_011528077.1:p.Val331Ala", "hgvsWellDefined": "XP_011528077.1:p.Val331Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096840" }, { "coordinates": [ { "allele": "C", "end": 1306, "referenceAllele": "T", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529776.1:c.992T>C" ], "proteinEffect": { "hgvs": "XP_011528078.1:p.Val331Ala", "hgvsWellDefined": "XP_011528078.1:p.Val331Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096841" }, { "coordinates": [ { "allele": "C", "end": 1129, "referenceAllele": "T", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.1:c.941T>C" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Val314Ala", "hgvsWellDefined": "XP_011528079.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096842" }, { "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529778.1:c.941T>C" ], "proteinEffect": { "hgvs": "XP_011528080.1:p.Val314Ala", "hgvsWellDefined": "XP_011528080.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096843" }, { "coordinates": [ { "allele": "C", "end": 1182, "referenceAllele": "T", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529779.1:c.941T>C" ], "proteinEffect": { "hgvs": "XP_011528081.1:p.Val314Ala", "hgvsWellDefined": "XP_011528081.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096844" }, { "coordinates": [ { "allele": "C", "end": 1194, "referenceAllele": "T", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529781.1:c.941T>C" ], "proteinEffect": { "hgvs": "XP_011528083.1:p.Val314Ala", "hgvsWellDefined": "XP_011528083.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096845" }, { "coordinates": [ { "allele": "C", "end": 1592, "referenceAllele": "T", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529782.1:c.941T>C" ], "proteinEffect": { "hgvs": "XP_011528084.1:p.Val314Ala", "hgvsWellDefined": "XP_011528084.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096846" }, { "coordinates": [ { "allele": "C", "end": 1219, "referenceAllele": "T", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.1:c.626T>C" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Val209Ala", "hgvsWellDefined": "XP_011528085.1:p.Val209Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096847" }, { "coordinates": [ { "allele": "C", "end": 1219, "referenceAllele": "T", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529784.1:c.626T>C" ], "proteinEffect": { "hgvs": "XP_011528086.1:p.Val209Ala", "hgvsWellDefined": "XP_011528086.1:p.Val209Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS096848" }, { "@id": "http://reg.genome.network/allele/PA2826132939", "coordinates": [ { "allele": "C", "end": 1193, "referenceAllele": "T", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.2:c.941T>C" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val314Ala", "hgvsWellDefined": "NP_001171479.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511745" }, { "@id": "http://reg.genome.network/allele/PA2826133615", "coordinates": [ { "allele": "C", "end": 1193, "referenceAllele": "T", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.2:c.941T>C" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val314Ala", "hgvsWellDefined": "NP_001171480.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511746" }, { "@id": "http://reg.genome.network/allele/PA1139696292", "coordinates": [ { "allele": "C", "end": 1187, "referenceAllele": "T", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.1:c.941T>C" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Val314Ala", "hgvsWellDefined": "NP_001307227.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS513529" }, { "@id": "http://reg.genome.network/allele/PA2827070443", "coordinates": [ { "allele": "C", "end": 1252, "referenceAllele": "T", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001321072.1:c.626T>C" ], "proteinEffect": { "hgvs": "NP_001308001.1:p.Val209Ala", "hgvsWellDefined": "NP_001308001.1:p.Val209Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS514014" }, { "coordinates": [ { "allele": "C", "end": 1312, "referenceAllele": "T", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.2:c.992T>C" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Val331Ala", "hgvsWellDefined": "XP_011528076.1:p.Val331Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549665" }, { "coordinates": [ { "allele": "C", "end": 1091, "referenceAllele": "T", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.2:c.941T>C" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Val314Ala", "hgvsWellDefined": "XP_011528079.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549666" }, { "coordinates": [ { "allele": "C", "end": 1224, "referenceAllele": "T", "start": 1223 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.2:c.626T>C" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Val209Ala", "hgvsWellDefined": "XP_011528085.1:p.Val209Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS549667" }, { "coordinates": [ { "allele": "C", "end": 1091, "referenceAllele": "T", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_017028491.2:c.941T>C" ], "proteinEffect": { "hgvs": "XP_016883980.1:p.Val314Ala", "hgvsWellDefined": "XP_016883980.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS578228" }, { "coordinates": [ { "allele": "C", "end": 1875, "referenceAllele": "T", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452136.1:c.992T>C" ], "proteinEffect": { "hgvs": "XP_024307904.1:p.Val331Ala", "hgvsWellDefined": "XP_024307904.1:p.Val331Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585638" }, { "coordinates": [ { "allele": "C", "end": 1875, "referenceAllele": "T", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452137.1:c.992T>C" ], "proteinEffect": { "hgvs": "XP_024307905.1:p.Val331Ala", "hgvsWellDefined": "XP_024307905.1:p.Val331Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585639" }, { "coordinates": [ { "allele": "C", "end": 1919, "referenceAllele": "T", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452138.1:c.626T>C" ], "proteinEffect": { "hgvs": "XP_024307906.1:p.Val209Ala", "hgvsWellDefined": "XP_024307906.1:p.Val209Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585640" }, { "coordinates": [ { "allele": "C", "end": 1913, "referenceAllele": "T", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452139.1:c.626T>C" ], "proteinEffect": { "hgvs": "XP_024307907.1:p.Val209Ala", "hgvsWellDefined": "XP_024307907.1:p.Val209Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585641" }, { "coordinates": [ { "allele": "C", "end": 1816, "referenceAllele": "T", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452140.1:c.626T>C" ], "proteinEffect": { "hgvs": "XP_024307908.1:p.Val209Ala", "hgvsWellDefined": "XP_024307908.1:p.Val209Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS585642" }, { "coordinates": [ { "allele": "C", "end": 1312, "referenceAllele": "T", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754915.1:n.1312T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS600857" }, { "coordinates": [ { "allele": "C", "end": 1091, "referenceAllele": "T", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754916.2:n.1091T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS600858" }, { "coordinates": [ { "allele": "C", "end": 1091, "referenceAllele": "T", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754917.2:n.1091T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS600859" }, { "coordinates": [ { "allele": "C", "end": 1912, "referenceAllele": "T", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_002958634.1:n.1912T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS604759" }, { "@id": "http://reg.genome.network/allele/PA2579798704", "coordinates": [ { "allele": "C", "end": 1091, "referenceAllele": "T", "start": 1090 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.3:c.941T>C" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Val314Ala", "hgvsWellDefined": "NP_000062.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.941T>C" }, "RefSeq": { "hgvs": "NM_000071.3:c.941T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Val314Ala" }, "RefSeq": { "hgvs": "NP_000062.1:p.Val314Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2826133615", "coordinates": [ { "allele": "C", "end": 1178, "referenceAllele": "T", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.941T>C" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Val314Ala", "hgvsWellDefined": "NP_001171480.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826132939", "coordinates": [ { "allele": "C", "end": 1178, "referenceAllele": "T", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.941T>C" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Val314Ala", "hgvsWellDefined": "NP_001171479.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA1139696292", "coordinates": [ { "allele": "C", "end": 1199, "referenceAllele": "T", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.941T>C" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Val314Ala", "hgvsWellDefined": "NP_001307227.1:p.Val314Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }