ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2636331931
Gene:
Linked Data
gnomAD v4:
17-16972142-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.16972142C>A , CM000679.2:g.16972142C>A
GRCh38
NC_000017.10:g.16875456C>A , CM000679.1:g.16875456C>A
GRCh37
NC_000017.9:g.16816181C>A
NCBI36
NG_007281.1:g.4947G>T , LRG_120:g.4947G>T
Search 100 bp 5'
Search 100 bp 3'