Allele Registry

Canonical Allele Identifier: PA2825335642

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000565273

RCV000687082

RCV003465269

ClinVar Variation:

485910

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Arg542Cys	CA181275404 NM_001024688.3:c.1624C>T