ClinGen Allele Registry
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Canonical Allele Identifier:
CA319959372
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr21:g.30688172A>G
GRCh37
chr21:g.32060490A>G
Linked Data - Sequence & Population
gnomAD v2:
21:32060490 A / G
gnomAD v3:
21:30688172 A / G
gnomAD v4:
chr21-30688172-A-G
Joint Max Group AF
0.60119944 (AMR)
Genomes Max Group AF
0.60119944 (AMR)
Linked Data - NCBI & NCI
dbSNP:
13046373
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.30688172A>G , CM000683.2:g.30688172A>G
GRCh38
NC_000021.8:g.32060490A>G , CM000683.1:g.32060490A>G
GRCh37
NC_000021.7:g.30982361A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'