ClinGen Allele Registry
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Canonical Allele Identifier:
CA637301658
Gene:
Linked Data
dbSNP Id:
rs1220571359
gnomAD v2:
21-23631628-A-G
gnomAD v3:
21-22259308-A-G
gnomAD v4:
21-22259308-A-G
MyVariant Identifiers:
chr21:g.23631628A>G (hg19)
chr21:g.22259308A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259308A>G , CM000683.2:g.22259308A>G
GRCh38
NC_000021.8:g.23631628A>G , CM000683.1:g.23631628A>G
GRCh37
NC_000021.7:g.22553499A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46495A>G
Search 100 bp 5'
Search 100 bp 3'