ClinGen Allele Registry
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Canonical Allele Identifier:
CA249533467
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.44053652C>T
GRCh37
chr13:g.44627788C>T
Linked Data - Sequence & Population
gnomAD v2:
13:44627788 C / T
gnomAD v3:
13:44053652 C / T
gnomAD v4:
chr13-44053652-C-T
Joint Max Group AF
0.13709189 (AFR)
Genomes Max Group AF
0.13709189 (AFR)
Linked Data - NCBI & NCI
dbSNP:
17065323
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.44053652C>T , CM000675.2:g.44053652C>T
GRCh38
NC_000013.10:g.44627788C>T , CM000675.1:g.44627788C>T
GRCh37
NC_000013.9:g.43525788C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'