Allele Registry

Canonical Allele Identifier: PA287909

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115783

RCV000216588

RCV000685440

ClinVar Variation:

127860

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Lys571Glu	CA287907 NM_002485.5:c.1711A>G