Allele Registry

Canonical Allele Identifier: PA2825334953

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000215651

RCV000699656

RCV003477740

ClinVar Variation:

232200

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Ser305Cys	CA4802785 NM_001024688.3:c.914C>G