ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA116867846
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.32830415T>C
GRCh37
chr5:g.32830521T>C
Linked Data - Sequence & Population
gnomAD v2:
5:32830521 T / C
gnomAD v3:
5:32830415 T / C
gnomAD v4:
chr5-32830415-T-C
Joint Max Group AF
0.78803808 (AFR)
Genomes Max Group AF
0.78803808 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1173727
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.32830415T>C , CM000667.2:g.32830415T>C
GRCh38
NC_000005.9:g.32830521T>C , CM000667.1:g.32830521T>C
GRCh37
NC_000005.8:g.32866278T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'