ClinGen Allele Registry
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Canonical Allele Identifier:
CA320088403
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.32997453C>T
GRCh37
chr21:g.34369761C>T
Linked Data - Sequence & Population
gnomAD v2:
21:34369761 C / T
gnomAD v3:
21:32997453 C / T
gnomAD v4:
chr21-32997453-C-T
Joint Max Group AF
0.01557613 (NFE)
Genomes Max Group AF
0.01557613 (NFE)
Linked Data - NCBI & NCI
dbSNP:
117124364
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.32997453C>T , CM000683.2:g.32997453C>T
GRCh38
NC_000021.8:g.34369761C>T , CM000683.1:g.34369761C>T
GRCh37
NC_000021.7:g.33291631C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_937671.1:n.396-21931C>T
Search 100 bp 5'
Search 100 bp 3'