Allele Registry

Canonical Allele Identifier: PA915956824

Gene: NBN HGNC NCBI

ClinVar Allele:

233699

ClinVar RCV:

RCV000223570

RCV000636732

ClinVar Variation:

231414

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Ile50Val	CA4802987 NM_001024688.3:c.148A>G