Allele Registry

Canonical Allele Identifier: PA658816704

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000636718

RCV001525100

RCV002464275

ClinVar Variation:

530726

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Pro572Leu	CA371655253 NM_002485.5:c.1715C>T