ClinGen Allele Registry
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Canonical Allele Identifier:
CA14861827
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr21:g.38801604C>T
GRCh37
chr21:g.40173528C>T
Linked Data - Sequence & Population
gnomAD v2:
21:40173528 C / T
gnomAD v3:
21:38801604 C / T
gnomAD v4:
chr21-38801604-C-T
Joint Max Group AF
0.39446304 (NFE)
Genomes Max Group AF
0.39446304 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1209950
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.38801604C>T , CM000683.2:g.38801604C>T
GRCh38
NC_000021.8:g.40173528C>T , CM000683.1:g.40173528C>T
GRCh37
NC_000021.7:g.39095398C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'