Allele Registry

Canonical Allele Identifier: PA336230

Gene: NBN HGNC NCBI

ClinVar Allele:

212645

ClinVar RCV:

RCV000196198

RCV001017981

ClinVar Variation:

216569

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Cys285Ser	CA336228 NM_002485.5:c.854G>C CA371658386 NM_002485.5:c.853T>A