ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12915253
Gene:
Linked Data
dbSNP Id:
rs12056729
gnomAD v2:
8-50024894-T-C
gnomAD v3:
8-49112335-T-C
gnomAD v4:
8-49112335-T-C
MyVariant Identifiers:
chr8:g.50024894T>C (hg19)
chr8:g.49112335T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.49112335T>C , CM000670.2:g.49112335T>C
GRCh38
NC_000008.10:g.50024894T>C , CM000670.1:g.50024894T>C
GRCh37
NC_000008.9:g.50187447T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'