Allele Registry

Canonical Allele Identifier: PA645465696

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000223570

RCV000636732

ClinVar Variation:

231414

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Ile132Val	CA4802987 NM_002485.5:c.394A>G