ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1041166017
Gene:
Linked Data
dbSNP Id:
rs2077888771
gnomAD v3:
2-200033128-T-C
gnomAD v4:
2-200033128-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033128T>C , CM000664.2:g.200033128T>C
GRCh38
NC_000002.11:g.200897851T>C , CM000664.1:g.200897851T>C
GRCh37
NC_000002.10:g.200606096T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22232A>G
Search 100 bp 5'
Search 100 bp 3'