ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2782088787
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478659del , CM000670.2:g.125478659del
GRCh38
NC_000008.10:g.126490901del , CM000670.1:g.126490901del
GRCh37
NC_000008.9:g.126560083del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5345del
Search 100 bp 5'
Search 100 bp 3'