Allele Registry

Canonical Allele Identifier: PA161001

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115805

RCV000121624

RCV000168183

RCV000656925

RCV003952554

ClinVar Variation:

127879

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Thr253Ile	CA160999 NM_002485.5:c.758C>T