ClinGen Allele Registry
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Canonical Allele Identifier:
CA320088403
Gene:
Linked Data
dbSNP Id:
rs117124364
gnomAD v2:
21-34369761-C-T
gnomAD v3:
21-32997453-C-T
gnomAD v4:
21-32997453-C-T
MyVariant Identifiers:
chr21:g.34369761C>T (hg19)
chr21:g.32997453C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.32997453C>T , CM000683.2:g.32997453C>T
GRCh38
NC_000021.8:g.34369761C>T , CM000683.1:g.34369761C>T
GRCh37
NC_000021.7:g.33291631C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_937671.1:n.396-21931C>T
Search 100 bp 5'
Search 100 bp 3'