ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1889344476
Gene:
Linked Data
dbSNP Id:
rs1812636136
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.8697472G>T , CM000672.2:g.8697472G>T
GRCh38
NC_000010.10:g.8739435G>T , CM000672.1:g.8739435G>T
GRCh37
NC_000010.9:g.8779441G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930641.1:n.33-27671C>A
Search 100 bp 5'
Search 100 bp 3'