ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2638669287
Gene:
Linked Data
gnomAD v4:
17-49995239-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995239G>A , CM000679.2:g.49995239G>A
GRCh38
NC_000017.10:g.48072603G>A , CM000679.1:g.48072603G>A
GRCh37
NC_000017.9:g.45427602G>A
NCBI36
NG_023063.1:g.4986C>T
Search 100 bp 5'
Search 100 bp 3'