Allele Registry

Canonical Allele Identifier: PA160992

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000007363

RCV000115802

RCV000121621

RCV000487932

RCV003891431

ClinVar Variation:

6948

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Arg215Trp	CA160990 NM_002485.5:c.643C>T