ClinGen Allele Registry
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Canonical Allele Identifier:
CA14861774
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.38684499A>C
GRCh37
chr21:g.40056423A>C
Linked Data - Sequence & Population
gnomAD v2:
21:40056423 A / C
gnomAD v3:
21:38684499 A / C
gnomAD v4:
chr21-38684499-A-C
Joint Max Group AF
0.51790976 (AMR)
Genomes Max Group AF
0.51790976 (AMR)
Linked Data - NCBI & NCI
dbSNP:
743446
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.38684499A>C , CM000683.2:g.38684499A>C
GRCh38
NC_000021.8:g.40056423A>C , CM000683.1:g.40056423A>C
GRCh37
NC_000021.7:g.38978293A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'