Allele Registry

Canonical Allele Identifier: PA658672070

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000565273

RCV000687082

RCV003465269

ClinVar Variation:

485910

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Arg624Cys	CA181275404 NM_002485.5:c.1870C>T