Allele Registry

Canonical Allele Identifier: PA2825335496

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000636718

RCV001525100

RCV002464275

ClinVar Variation:

530726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Pro490Leu	CA371655253 NM_001024688.3:c.1469C>T