Allele Registry

Canonical Allele Identifier: PA2825334250

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000131226

RCV000168344

RCV000193311

RCV000586867

RCV001354986

ClinVar Variation:

142227

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Ser11Leu	CA206703 NM_001024688.3:c.32C>T