Allele Registry

Canonical Allele Identifier: PA2825335493

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115783

RCV000216588

RCV000685440

ClinVar Variation:

127860

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Lys489Glu	CA287907 NM_001024688.3:c.1465A>G