ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA559268933
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.40401430T>C
GRCh37
chr5:g.40401532T>C
Linked Data - Sequence & Population
gnomAD v2:
5:40401532 T / C
gnomAD v3:
5:40401430 T / C
gnomAD v4:
chr5-40401430-T-C
Joint Max Group AF
0.000008 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1173182329
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40401430T>C , CM000667.2:g.40401430T>C
GRCh38
NC_000005.9:g.40401532T>C , CM000667.1:g.40401532T>C
GRCh37
NC_000005.8:g.40437289T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'