ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1817437322
Gene:
Linked Data
dbSNP Id:
rs1813165527
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125474177C>A , CM000670.2:g.125474177C>A
GRCh38
NC_000008.10:g.126486419C>A , CM000670.1:g.126486419C>A
GRCh37
NC_000008.9:g.126555601C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+863C>A
Search 100 bp 5'
Search 100 bp 3'