Allele Registry

Canonical Allele Identifier: PA190137

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000164141

RCV000197233

RCV001354892

RCV003467286

ClinVar Variation:

184816

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Leu489Val	CA190135 NM_002485.5:c.1465C>G