ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1052104018
Gene:
Linked Data
dbSNP Id:
rs999717800
gnomAD v3:
3-109743515-T-A
gnomAD v4:
3-109743515-T-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.109743515T>A , CM000665.2:g.109743515T>A
GRCh38
NC_000003.11:g.109462362T>A , CM000665.1:g.109462362T>A
GRCh37
NC_000003.10:g.110945052T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924325.1:n.142+63320T>A
Search 100 bp 5'
Search 100 bp 3'