Allele Registry

Canonical Allele Identifier: PA287939

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115796

RCV000123218

RCV000587269

RCV000764786

RCV001030567

RCV001549273

RCV003389690

ClinVar Variation:

127873

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Arg169Cys	CA287937 NM_002485.5:c.505C>T