ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA170474100
Gene:
Linked Data
dbSNP Id:
rs11987758
gnomAD v3:
8-2180583-G-A
gnomAD v4:
8-2180583-G-A
MyVariant Identifiers:
chr8:g.2180583G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.2180583G>A , CM000670.2:g.2180583G>A
GRCh38
NC_000008.9:g.2116193G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_941356.1:n.112-12352G>A
XR_941355.2:n.133-3441G>A
XR_941356.2:n.133-12352G>A
Search 100 bp 5'
Search 100 bp 3'