ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA13593517
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr12:g.71935326T>C
GRCh37
chr12:g.72329106T>C
Linked Data - Sequence & Population
gnomAD v2:
12:72329106 T / C
gnomAD v3:
12:71935326 T / C
gnomAD v4:
chr12-71935326-T-C
Joint Max Group AF
0.48533279 (NFE)
Genomes Max Group AF
0.48533279 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4448731
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71935326T>C , CM000674.2:g.71935326T>C
GRCh38
NC_000012.11:g.72329106T>C , CM000674.1:g.72329106T>C
GRCh37
NC_000012.10:g.70615373T>C
NCBI36
NG_008279.1:g.1481T>C
Search 100 bp 5'
Search 100 bp 3'