Allele Registry

Canonical Allele Identifier: PA2825335485

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000160791

RCV000563554

RCV000771478

RCV000796112

RCV001800471

ClinVar Variation:

182724

480060

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Phe485Leu	CA299621 NM_001024688.3:c.1455C>G CA371655286 NM_001024688.3:c.1455C>A CA371655291 NM_001024688.3:c.1453T>C