ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2686820511
Gene:
Linked Data
gnomAD v4:
8-30728129-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728129C>A , CM000670.2:g.30728129C>A
GRCh38
NC_000008.10:g.30585646C>A , CM000670.1:g.30585646C>A
GRCh37
NC_000008.9:g.30705188C>A
NCBI36
NG_027719.1:g.4841G>T
Search 100 bp 5'
Search 100 bp 3'