Allele Registry

Canonical Allele Identifier: PA915956855

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000160796

RCV000222254

RCV000456204

RCV000781643

ClinVar Variation:

182729

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Lys74Asn	CA299636 NM_001024688.3:c.222A>C CA371661508 NM_001024688.3:c.222A>T