Allele Registry

Canonical Allele Identifier: PA658672195

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000575176

RCV000636782

RCV001584370

ClinVar Variation:

480065

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Arg714Gly	CA4802601 NM_002485.5:c.2140C>G