ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA318813253
Gene:
Linked Data
dbSNP Id:
rs144054370
gnomAD v2:
21-23631591-A-T
gnomAD v3:
21-22259271-A-T
gnomAD v4:
21-22259271-A-T
MyVariant Identifiers:
chr21:g.23631591A>T (hg19)
chr21:g.22259271A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259271A>T , CM000683.2:g.22259271A>T
GRCh38
NC_000021.8:g.23631591A>T , CM000683.1:g.23631591A>T
GRCh37
NC_000021.7:g.22553462A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46458A>T
Search 100 bp 5'
Search 100 bp 3'