Allele Registry

Canonical Allele Identifier: PA645465899

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000463281

RCV000565324

RCV002279233

ClinVar Variation:

411771

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Arg425Lys	CA16612541 NM_002485.5:c.1274G>A