ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1041166002
Gene:
Linked Data
dbSNP Id:
rs2077888552
gnomAD v3:
2-200033074-C-T
gnomAD v4:
2-200033074-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033074C>T , CM000664.2:g.200033074C>T
GRCh38
NC_000002.11:g.200897797C>T , CM000664.1:g.200897797C>T
GRCh37
NC_000002.10:g.200606042C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22178G>A
Search 100 bp 5'
Search 100 bp 3'