Allele Registry

Canonical Allele Identifier: PA2825335755

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115786

RCV000212753

RCV000230585

RCV000515337

RCV001328956

RCV001778709

RCV003915124

ClinVar Variation:

127863

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Ser585Pro	CA287913 NM_001024688.3:c.1753T>C