Allele Registry

Canonical Allele Identifier: PA299595

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000160780

RCV000205060

RCV000726896

RCV002229765

RCV003474833

ClinVar Variation:

182713

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Pro199Arg	CA299593 NM_002485.5:c.596C>G