Allele Registry

Canonical Allele Identifier: PA645466092

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000486410

RCV001013475

RCV001309682

ClinVar Variation:

418857

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Leu631Val	CA16618699 NM_002485.5:c.1891C>G