Allele Registry

Canonical Allele Identifier: PA645466013

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000484172

RCV000550537

RCV001012314

ClinVar Variation:

418889

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Val532Met	CA4802701 NM_002485.5:c.1594G>A