Allele Registry

Canonical Allele Identifier: PA168523

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000131642

RCV000477065

RCV000485286

ClinVar Variation:

142497

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Met317Val	CA168521 NM_002485.5:c.949A>G