Allele Registry

Canonical Allele Identifier: PA645465981

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000213507

RCV000559007

RCV000732065

ClinVar Variation:

230440

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Gln492Lys	CA10578762 NM_002485.5:c.1474C>A