ClinGen Allele Registry
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Canonical Allele Identifier:
CA116349017
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28340029C>T
GRCh37
chr5:g.28340136C>T
Linked Data - Sequence & Population
gnomAD v3:
5:28340029 C / T
gnomAD v4:
chr5-28340029-C-T
Joint Max Group AF
0.00159404 (SAS)
Genomes Max Group AF
0.00159404 (SAS)
Linked Data - NCBI & NCI
dbSNP:
566149069
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28340029C>T , CM000667.2:g.28340029C>T
GRCh38
NC_000005.9:g.28340136C>T , CM000667.1:g.28340136C>T
GRCh37
NC_000005.8:g.28375893C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'