Allele Registry

Canonical Allele Identifier: PA2825335392

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000484172

RCV000550537

RCV001012314

ClinVar Variation:

418889

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Val450Met	CA4802701 NM_001024688.3:c.1348G>A