ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA637301657
Gene:
Linked Data
dbSNP Id:
rs1316183013
gnomAD v2:
21-23631614-T-C
gnomAD v3:
21-22259294-T-C
gnomAD v4:
21-22259294-T-C
MyVariant Identifiers:
chr21:g.23631614T>C (hg19)
chr21:g.22259294T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259294T>C , CM000683.2:g.22259294T>C
GRCh38
NC_000021.8:g.23631614T>C , CM000683.1:g.23631614T>C
GRCh37
NC_000021.7:g.22553485T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46481T>C
Search 100 bp 5'
Search 100 bp 3'