Allele Registry

Canonical Allele Identifier: PA645465885

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000217029

RCV000474157

RCV000486277

RCV000988085

RCV001797729

RCV001805080

RCV002478803

ClinVar Variation:

232551

411760

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Ala400Thr	CA4802781 NM_002485.5:c.1198G>A CA16612365 NM_002485.5:c.1197_1198delinsCA