Allele Registry

Canonical Allele Identifier: PA645465944

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000213681

RCV000463881

RCV000484796

RCV003475035

ClinVar Variation:

233769

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Gln473Lys	CA4802721 NM_002485.5:c.1417C>A