ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2693054949
Gene:
Linked Data
gnomAD v4:
X-8732315-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.8732315C>A , CM000685.2:g.8732315C>A
GRCh38
NC_000023.10:g.8700356C>A , CM000685.1:g.8700356C>A
GRCh37
NC_000023.9:g.8660356C>A
NCBI36
NG_007088.1:g.4872G>T
NG_007088.2:g.4872G>T
Search 100 bp 5'
Search 100 bp 3'