ClinGen Allele Registry
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Canonical Allele Identifier:
CA317824453
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr21:g.14472731A>G
GRCh37
chr21:g.15845052A>G
Linked Data - Sequence & Population
gnomAD v2:
21:15845052 A / G
gnomAD v3:
21:14472731 A / G
gnomAD v4:
chr21-14472731-A-G
Joint Max Group AF
0.22192983 (SAS)
Genomes Max Group AF
0.22192983 (SAS)
Linked Data - NCBI & NCI
dbSNP:
1006899
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472731A>G , CM000683.2:g.14472731A>G
GRCh38
NC_000021.8:g.15845052A>G , CM000683.1:g.15845052A>G
GRCh37
NC_000021.7:g.14766923A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'