Allele Registry

Canonical Allele Identifier: PA2825335576

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000215909

RCV000534730

RCV003153514

ClinVar Variation:

233713

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Thr517Arg	CA4802684 NM_001024688.3:c.1550C>G