ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA13958916
Community Standard Title: NC_000014.9:g.50857024G>A
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.50857024G>A , CM000676.2:g.50857024G>A
GRCh38
NC_000014.8:g.51323742G>A , CM000676.1:g.51323742G>A
GRCh37
NC_000014.7:g.50393492G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943848.1:n.282+1074C>T
XR_943848.2:n.643+1074C>T
Search 100 bp 5'
Search 100 bp 3'