Allele Registry

Canonical Allele Identifier: PA2825334824

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000230649

RCV000446226

RCV001770195

RCV001818596

RCV003469157

ClinVar Variation:

239182

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Ser259Arg	CA4802815 NM_001024688.3:c.777C>G CA371656765 NM_001024688.3:c.777C>A CA371656771 NM_001024688.3:c.775A>C