ClinGen Allele Registry
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Canonical Allele Identifier:
CA250307262
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr13:g.54179837T>C
GRCh37
chr13:g.54753972T>C
Linked Data - Sequence & Population
gnomAD v2:
13:54753972 T / C
gnomAD v3:
13:54179837 T / C
gnomAD v4:
chr13-54179837-T-C
Joint Max Group AF
0.09610918 (AFR)
Genomes Max Group AF
0.09610918 (AFR)
Linked Data - NCBI & NCI
dbSNP:
795659
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.54179837T>C , CM000675.2:g.54179837T>C
GRCh38
NC_000013.10:g.54753972T>C , CM000675.1:g.54753972T>C
GRCh37
NC_000013.9:g.53651973T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'