Allele Registry

Canonical Allele Identifier: PA335801

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000195616

RCV000486313

RCV000566063

RCV001731429

RCV003407708

ClinVar Variation:

216567

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Arg660Thr	CA335799 NM_002485.5:c.1979G>C