Allele Registry

Canonical Allele Identifier: PA2825334415

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000114880

RCV000115801

RCV000121622

RCV000168062

RCV000515300

RCV001358247

RCV003891593

ClinVar Variation:

127014

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019859.1:p.Val128Phe	CA160993 NM_001024688.3:c.382G>T