Allele Registry

Canonical Allele Identifier: PA2825334534

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115805

RCV000121624

RCV000168183

RCV000656925

RCV003952554

ClinVar Variation:

127879

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Thr171Ile	CA160999 NM_001024688.3:c.512C>T