Allele Registry

Canonical Allele Identifier: PA658671552

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000576061

RCV000636728

ClinVar Variation:

480020

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Ile171Leu	CA181279296 NM_002485.5:c.511A>C