Allele Registry

Canonical Allele Identifier: PA645465881

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000215651

RCV000699656

RCV003477740

ClinVar Variation:

232200

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Ser387Cys	CA4802785 NM_002485.5:c.1160C>G