Allele Registry

Canonical Allele Identifier: PA658671923

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000566537

RCV000815889

ClinVar Variation:

481865

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Lys504Arg	CA4802708 NM_002485.5:c.1511A>G