ClinGen Allele Registry
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Canonical Allele Identifier:
CA15983260
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.20448096C>T
GRCh37
chr21:g.21820408C>T
Linked Data - Sequence & Population
gnomAD v2:
21:21820408 C / T
gnomAD v3:
21:20448096 C / T
gnomAD v4:
chr21-20448096-C-T
Joint Max Group AF
0.86703605 (EAS)
Genomes Max Group AF
0.86703605 (EAS)
Linked Data - NCBI & NCI
dbSNP:
1735884
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.20448096C>T , CM000683.2:g.20448096C>T
GRCh38
NC_000021.8:g.21820408C>T , CM000683.1:g.21820408C>T
GRCh37
NC_000021.7:g.20742279C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'