ClinGen Allele Registry
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Canonical Allele Identifier:
CA14881048
Gene:
Linked Data
dbSNP Id:
rs643608
gnomAD v2:
21-44768562-C-T
gnomAD v3:
21-43348682-C-T
gnomAD v4:
21-43348682-C-T
MyVariant Identifiers:
chr21:g.44768562C>T (hg19)
chr21:g.43348682C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.43348682C>T , CM000683.2:g.43348682C>T
GRCh38
NC_000021.8:g.44768562C>T , CM000683.1:g.44768562C>T
GRCh37
NC_000021.7:g.43592990C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'