ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12020554
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.8652758T>C
GRCh37
chr5:g.8652870T>C
Linked Data - Sequence & Population
gnomAD v2:
5:8652870 T / C
gnomAD v3:
5:8652758 T / C
gnomAD v4:
chr5-8652758-T-C
Joint Max Group AF
0.30516005 (SAS)
Genomes Max Group AF
0.30516005 (SAS)
Linked Data - NCBI & NCI
dbSNP:
200113
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.8652758T>C , CM000667.2:g.8652758T>C
GRCh38
NC_000005.9:g.8652870T>C , CM000667.1:g.8652870T>C
GRCh37
NC_000005.8:g.8705870T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'