Allele Registry

Canonical Allele Identifier: PA160995

Gene: NBN HGNC NCBI

ClinVar RCV:

RCV000114880

RCV000115801

RCV000121622

RCV000168062

RCV000515300

RCV001358247

RCV003891593

ClinVar Variation:

127014

HGVS (amino-acid)	Matching Registered Transcripts
NP_002476.2:p.Val210Phe	CA160993 NM_002485.5:c.628G>T