Allele Registry

Canonical Allele Identifier: PA2825335218

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000213681

RCV000463881

RCV000484796

RCV003475035

ClinVar Variation:

233769

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Gln391Lys	CA4802721 NM_001024688.3:c.1171C>A