ClinGen Allele Registry
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Canonical Allele Identifier:
CA14911171
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr21:g.20512990A>T
GRCh37
chr21:g.21885302A>T
Linked Data - Sequence & Population
gnomAD v2:
21:21885302 A / T
gnomAD v3:
21:20512990 A / T
gnomAD v4:
chr21-20512990-A-T
Joint Max Group AF
0.19668856 (AFR)
Genomes Max Group AF
0.19668856 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2826340
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.20512990A>T , CM000683.2:g.20512990A>T
GRCh38
NC_000021.8:g.21885302A>T , CM000683.1:g.21885302A>T
GRCh37
NC_000021.7:g.20807173A>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'