ClinGen Allele Registry
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Canonical Allele Identifier:
CA124378730
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.104872253T>C
GRCh37
chr5:g.104207954T>C
Linked Data - Sequence & Population
gnomAD v3:
5:104872253 T / C
gnomAD v4:
chr5-104872253-T-C
Joint Max Group AF
0.000008 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Linked Data - NCBI & NCI
dbSNP:
764856764
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.104872253T>C , CM000667.2:g.104872253T>C
GRCh38
NC_000005.9:g.104207954T>C , CM000667.1:g.104207954T>C
GRCh37
NC_000005.8:g.104235853T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'