Allele Registry

Canonical Allele Identifier: PA645465882

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000468237

RCV000570523

RCV001194317

RCV001800687

ClinVar Variation:

411739

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Phe393Leu	CA16612543 NM_002485.5:c.1177T>C CA371656416 NM_002485.5:c.1179C>A CA371656417 NM_002485.5:c.1179C>G