Allele Registry

Canonical Allele Identifier: PA658816670

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000636740

RCV004025480

ClinVar Variation:

530739

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Pro495Ser	CA371655760 NM_002485.5:c.1483C>T