ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA317824458
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.14472759C>T
GRCh37
chr21:g.15845080C>T
Linked Data - Sequence & Population
gnomAD v2:
21:15845080 C / T
gnomAD v3:
21:14472759 C / T
gnomAD v4:
chr21-14472759-C-T
Joint Max Group AF
0.00007928 (NFE)
Genomes Max Group AF
0.00007928 (NFE)
Linked Data - NCBI & NCI
dbSNP:
549883809
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472759C>T , CM000683.2:g.14472759C>T
GRCh38
NC_000021.8:g.15845080C>T , CM000683.1:g.15845080C>T
GRCh37
NC_000021.7:g.14766951C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'