Allele Registry

Canonical Allele Identifier: PA2825335074

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000463281

RCV000565324

RCV002279233

ClinVar Variation:

411771

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Arg343Lys	CA16612541 NM_001024688.3:c.1028G>A