ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA839587131
Gene:
Linked Data
dbSNP Id:
rs535811630
gnomAD v3:
7-52404817-T-C
gnomAD v4:
7-52404817-T-C
MyVariant Identifiers:
chr7:g.52472513T>C (hg19)
chr7:g.52404817T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.52404817T>C , CM000669.2:g.52404817T>C
GRCh38
NC_000007.13:g.52472513T>C , CM000669.1:g.52472513T>C
GRCh37
NC_000007.12:g.52440007T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'