ClinGen Allele Registry
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Canonical Allele Identifier:
CA638050868
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr21:g.41139991T>A
GRCh37
chr21:g.42511918T>A
Linked Data - Sequence & Population
gnomAD v2:
21:42511918 T / A
gnomAD v3:
21:41139991 T / A
gnomAD v4:
chr21-41139991-T-A
Joint Max Group AF
0.00001922 (AFR)
Genomes Max Group AF
0.00001922 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2837960
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.41139991T>A , CM000683.2:g.41139991T>A
GRCh38
NC_000021.8:g.42511918T>A , CM000683.1:g.42511918T>A
GRCh37
NC_000021.7:g.41433788T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'