Allele Registry

Canonical Allele Identifier: PA299623

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000160791

RCV000563554

RCV000771478

RCV000796112

RCV001800471

ClinVar Variation:

182724

480060

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Phe567Leu	CA299621 NM_002485.5:c.1701C>G CA371655286 NM_002485.5:c.1701C>A CA371655291 NM_002485.5:c.1699T>C