ClinGen Allele Registry
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Canonical Allele Identifier:
CA14810869
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.53733353T>C
GRCh37
chr20:g.52349892T>C
Linked Data - Sequence & Population
gnomAD v2:
20:52349892 T / C
gnomAD v3:
20:53733353 T / C
gnomAD v4:
chr20-53733353-T-C
Joint Max Group AF
0.48141612 (EAS)
Genomes Max Group AF
0.48141612 (EAS)
Linked Data - NCBI & NCI
dbSNP:
6091737
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.53733353T>C , CM000682.2:g.53733353T>C
GRCh38
NC_000020.10:g.52349892T>C , CM000682.1:g.52349892T>C
GRCh37
NC_000020.9:g.51783299T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'