Allele Registry

Canonical Allele Identifier: PA2825335614

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000471606

RCV000483350

RCV000569351

RCV001290536

RCV003476116

ClinVar Variation:

411782

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Ser533Pro	CA4802679 NM_001024688.3:c.1597T>C