Allele Registry

Canonical Allele Identifier: PA645466058

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000215909

RCV000534730

RCV003153514

ClinVar Variation:

233713

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Thr599Arg	CA4802684 NM_002485.5:c.1796C>G