Allele Registry

Canonical Allele Identifier: PA2825335502

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000115784

RCV000121614

RCV000123208

RCV000587365

RCV001354070

ClinVar Variation:

127861

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Leu492Ile	CA160969 NM_001024688.3:c.1474T>A