ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA318549552
Gene:
Linked Data
dbSNP Id:
rs553393905
gnomAD v3:
21-20448117-C-T
gnomAD v4:
21-20448117-C-T
MyVariant Identifiers:
chr21:g.21820429C>T (hg19)
chr21:g.20448117C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.20448117C>T , CM000683.2:g.20448117C>T
GRCh38
NC_000021.8:g.21820429C>T , CM000683.1:g.21820429C>T
GRCh37
NC_000021.7:g.20742300C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'