ClinGen Allele Registry
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Canonical Allele Identifier:
CA317824446
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.14472693A>G
GRCh37
chr21:g.15845014A>G
Linked Data - Sequence & Population
gnomAD v2:
21:15845014 A / G
gnomAD v3:
21:14472693 A / G
gnomAD v4:
chr21-14472693-A-G
Joint Max Group AF
0.00018572 (AFR)
Genomes Max Group AF
0.00018572 (AFR)
Linked Data - NCBI & NCI
dbSNP:
982534610
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472693A>G , CM000683.2:g.14472693A>G
GRCh38
NC_000021.8:g.15845014A>G , CM000683.1:g.15845014A>G
GRCh37
NC_000021.7:g.14766885A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'