ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2364011423
Gene:
Linked Data - NCBI & NCI
dbSNP:
11696257
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.40642176C>A , CM000682.2:g.40642176C>A
GRCh38
NC_000020.10:g.39270816C>A , CM000682.1:g.39270816C>A
GRCh37
NC_000020.9:g.38704230C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754597.1:n.180+1735G>T
Search 100 bp 5'
Search 100 bp 3'