Allele Registry

Canonical Allele Identifier: PA2825335510

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000130210

RCV000199051

RCV000499428

RCV000589088

RCV003474761

ClinVar Variation:

141617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Asp495Tyr	CA165950 NM_001024688.3:c.1483G>T