ClinGen Allele Registry
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Canonical Allele Identifier:
CA637301655
Gene:
Linked Data
dbSNP Id:
rs1224413198
gnomAD v2:
21-23631588-C-T
gnomAD v3:
21-22259268-C-T
gnomAD v4:
21-22259268-C-T
MyVariant Identifiers:
chr21:g.23631588C>T (hg19)
chr21:g.22259268C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259268C>T , CM000683.2:g.22259268C>T
GRCh38
NC_000021.8:g.23631588C>T , CM000683.1:g.23631588C>T
GRCh37
NC_000021.7:g.22553459C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46455C>T
Search 100 bp 5'
Search 100 bp 3'