ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA318813254
Gene:
Linked Data
dbSNP Id:
rs949469939
gnomAD v3:
21-22259275-T-C
gnomAD v4:
21-22259275-T-C
MyVariant Identifiers:
chr21:g.23631595T>C (hg19)
chr21:g.22259275T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259275T>C , CM000683.2:g.22259275T>C
GRCh38
NC_000021.8:g.23631595T>C , CM000683.1:g.23631595T>C
GRCh37
NC_000021.7:g.22553466T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46462T>C
Search 100 bp 5'
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