ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA604847416
Gene:
Linked Data
dbSNP Id:
rs116902574
gnomAD v2:
12-48234779-A-C
gnomAD v3:
12-47840996-A-C
gnomAD v4:
12-47840996-A-C
MyVariant Identifiers:
chr12:g.48234779A>C (hg19)
chr12:g.47840996A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.47840996A>C , CM000674.2:g.47840996A>C
GRCh38
NC_000012.11:g.48234779A>C , CM000674.1:g.48234779A>C
GRCh37
NC_000012.10:g.46521046A>C
NCBI36
NG_008731.1:g.69036T>G
Search 100 bp 5'
Search 100 bp 3'