ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1957116979
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.21655796G>A , CM000673.2:g.21655796G>A
GRCh38
NC_000011.9:g.21677342G>A , CM000673.1:g.21677342G>A
GRCh37
NC_000011.8:g.21633918G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001748150.1:n.348-7812C>T
Search 100 bp 5'
Search 100 bp 3'