ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1130022444
Gene:
Linked Data
dbSNP Id:
rs1588270471
gnomAD v3:
9-136687567-A-C
gnomAD v4:
9-136687567-A-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.136687567A>C , CM000671.2:g.136687567A>C
GRCh38
NC_000009.11:g.139582019A>C , CM000671.1:g.139582019A>C
GRCh37
NC_000009.10:g.138701840A>C
NCBI36
NG_008090.1:g.4893T>G
Search 100 bp 5'
Search 100 bp 3'