ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA982740828
Gene:
Linked Data - Sequence & Population
gnomAD v3:
17:28274107 T / A
gnomAD v4:
chr17-28274107-T-A
Linked Data - NCBI & NCI
dbSNP:
2006933
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.28274107T>A , CM000679.2:g.28274107T>A
GRCh38
NC_000017.10:g.26601133T>A , CM000679.1:g.26601133T>A
GRCh37
NC_000017.9:g.23625260T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934642.1:n.815+981A>T
Search 100 bp 5'
Search 100 bp 3'