Allele Registry

Canonical Allele Identifier: PA2825335065

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000114875

RCV000115780

RCV000123203

RCV000212745

RCV000515275

RCV000757930

RCV001358304

ClinVar Variation:

127009

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Leu339Ser	CA230729 NM_001024688.3:c.1016T>C