Allele Registry

Canonical Allele Identifier: PA299638

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000160796

RCV000222254

RCV000456204

RCV000781643

ClinVar Variation:

182729

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Lys156Asn	CA299636 NM_002485.5:c.468A>C CA371661508 NM_002485.5:c.468A>T