Allele Registry

Canonical Allele Identifier: PA160989

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000121620

RCV000162358

RCV000374656

RCV001705896

RCV002225385

RCV003315762

ClinVar Variation:

134876

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Glu185Gln	CA160987 NM_002485.5:c.553G>C